Chondrodysplasia Punctata
A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
Chondrodysplasia Punctata, Rhizomelic
An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)
Plasmalogens
Phytanic Acid
Peroxisomal Disorders
A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.
Refsum Disease
An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.
Zellweger Syndrome
An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
Acetyl-CoA C-Acetyltransferase
Arylsulfatases
Microbodies
Acyltransferases
Peroxisomes
Exostoses, Multiple Hereditary
Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.
Dwarfism
Fibroblasts
Cockroaches
Copyright
It is a form of protection provided by law. In the United States this protection is granted to authors of original works of authorship, including literary, dramatic, musical, artistic, and certain other intellectual works. This protection is available to both published and unpublished works. (from Circular of the United States Copyright Office, 6/30/2008)
Melissa
Mixed Connective Tissue Disease
A syndrome with overlapping clinical features of systemic lupus erythematosus, scleroderma, polymyositis, and Raynaud's phenomenon. The disease is differentially characterized by high serum titers of antibodies to ribonuclease-sensitive extractable (saline soluble) nuclear antigen and a "speckled" epidermal nuclear staining pattern on direct immunofluorescence.
Connective Tissue Diseases
Rare Diseases
Early Intervention (Education)
Procedures and programs that facilitate the development or skill acquisition in infants and young children who have disabilities, who are at risk for developing disabilities, or who are gifted. It includes programs that are designed to prevent handicapping conditions in infants and young children and family-centered programs designed to affect the functioning of infants and children with special needs. (From Journal of Early Intervention, Editorial, 1989, vol. 13, no. 1, p. 3; A Discursive Dictionary of Health Care, prepared for the U.S. House of Representatives Committee on Interstate and Foreign Commerce, 1976)
Questionnaires
Advisory Committees
Registries
Orphan Drug Production
United States Social Security Administration
An independent agency within the Executive Branch of the United States Government. It administers a national social insurance program whereby employees, employers, and the self-employed pay contributions into pooled trust funds. Part of the contributions go into a separate hospital insurance trust fund for workers at age 65 to provide help with medical expenses. Other programs include the supplemental social security income program for the aged, blind, and disabled and the Old Age Survivors and Disability Insurance Program. It became an independent agency March 31, 1995. It had previously been part of the Department of Health, Education, and Welfare, later the Department of Health and Human Services. (From United States Government Manual, 1994-95)
Insurance, Disability
Insurance designed to compensate persons who lose wages because of illness or injury; insurance providing periodic payments that partially replace lost wages, salary, or other income when the insured is unable to work because of illness, injury, or disease. Individual and group disability insurance are two types of such coverage. (From Facts on File Dictionary of Health Care Management, 1988, p207)
Computer Security
Protective measures against unauthorized access to or interference with computer operating systems, telecommunications, or data structures, especially the modification, deletion, destruction, or release of data in computers. It includes methods of forestalling interference by computer viruses or so-called computer hackers aiming to compromise stored data.
Presenilin-1
Integral membrane protein of Golgi and endoplasmic reticulum. Its homodimer is an essential component of the gamma-secretase complex that catalyzes the cleavage of membrane proteins such as NOTCH RECEPTORS and AMYLOID BETA-PEPTIDES precursors. PSEN1 mutations cause early-onset ALZHEIMER DISEASE type 3 that may occur as early as 30 years of age in humans.
Alzheimer Disease
A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)
Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. (1/23)
Rhizomelic chondrodysplasia punctata is an autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones. Most fetuses with the disorder die in utero or shortly thereafter, and the few that survive suffer severe debility and profound mental retardation. Death ensues in the first decade of life. Relatively few reports discuss antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. We describe the prospective antenatal diagnosis of rhizomelic chondrodysplasia punctata in a fetus with no family history of the disorder, based on the sonographic findings of severe rhizomelic limb shortening in combination with premature ossification and stippling of multiple epiphyses. The ultrasonographic features and differential diagnosis of rhizomelic chondrodysplasia punctata are elaborated. (+info)Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities. (2/23)
Recent studies have indicated that two peroxisomal enzymes involved in ether lipid synthesis, i.e., dihydroxyacetonephosphate acyltransferase and alkyl-dihydroxyacetonephosphate synthase, are directed to peroxisomes by different targeting signals, i.e., peroxisomal targeting signal type 1 and type 2, respectively. In this study, we describe a new human fibroblast cell line in which alkyl-dihydroxyacetonephosphate synthase was found to be deficient both at the level of enzyme activity and enzyme protein. At the cDNA level, a 128 base pair deletion was found leading to a premature stop. Remarkably, dihydroxyacetonephosphate acyltransferase activity was strongly reduced to a level comparable to the activities measured in fibroblasts from patients affected by the classical form of rhizomelic chondrodysplasia punctata (caused by a defect in peroxisomal targeting signal type 2 import). Dihydroxyacetonephosphate acyltransferase activity was completely normal in another alkyl-dihydroxyacetonephosphate synthase activity-deficient patient. Fibroblasts from this patient showed normal levels of the synthase protein and inactivity results from a point mutation leading to an amino acid substitution. These results strongly suggest that the activity of dihydroxyacetonephosphate acyltransferase is dependent on the presence of alkyl-dihydroxyacetonephosphate synthase protein. This interpretation implies that the deficiency of dihydroxyacetonephosphate acyltransferase (targeted by a peroxisomal targeting signal type 1) in the classic form of rhizomelic chondrodysplasia punctata is a consequence of the absence of the alkyl-dihydroxyacetonephosphate synthase protein (targeted by a peroxisomal targeting signal type 2). (+info)MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. (3/23)
A case of rhizomelic chondrodysplasia punctata was investigated with MR imaging of the brain and hydrogen-1 MR spectroscopy of the brain and blood. Areas with abnormal signal hyperintensity on T2-weighted images or hypointensity on T1-weighted images were detected in the subcortical white matter. MR spectroscopy of the brain showed that normal-appearing white matter was characterized by increased levels of mobile lipids and myo-inositol, reduced levels of choline, and the presence of acetate. The importance of these metabolic anomalies is correlated to the deficiency in plasmalogen biosynthesis. (+info)Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins. (4/23)
Pex7p is a WD40-containing protein involved in peroxisomal import of proteins containing an N-terminal peroxisome-targeting signal (PTS2). The interaction of human recombinant Pex7p expressed in different hosts/systems with its PTS2 ligand and other peroxins was analysed using various experimental approaches. Specific binding of human Pex7p to PTS2 could be demonstrated only when Pex7p was formed in vitro by a coupled transcription/translation system or synthesized in vivo in Chinese hamster ovary K1 cells transfected with a construct coding for a Pex7p-green fluorescent protein (GFP) fusion protein. Apparently, no cofactors are required and only monomeric Pex7p binds to PTS2. The interaction is reduced upon cysteine alkylation and is impaired upon truncation of the N-terminus of Pex7p. Interaction of Pex7p with other peroxins could not be demonstrated in bacterial or yeast two-hybrid screens, or in pull-down binding assays. The GFP fusion proteins, tagged at either the N- or C-terminus, were able to restore PTS2 import in rhizomelic chondrodysplasia punctata fibroblasts, and Pex7p-GFP was located both in the lumen of peroxisomes and in the cytosol. (+info)Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice. (5/23)
Although known for almost 80 years, the physiological role of plasmalogens (PLs), the major mammalian ether lipids (ELs), is still enigmatic. Humans that lack ELs suffer from rhizomelic chondrodysplasia punctata (RCDP), a peroxisomal disorder usually resulting in death in early childhood. In order to learn more about the functions of ELs, we generated a mouse model for RCDP by a targeted disruption of the dihydroxyacetonephosphate acyltransferase gene. The mutant mice revealed multiple abnormalities, such as male infertility, defects in eye development, cataract and optic nerve hypoplasia, some of which were also observed in RCDP. Mass spectroscopic analysis demonstrated the presence of highly unsaturated fatty acids including docosahexaenoic acid (DHA) in brain PLs and the occurrence of PLs in lipid raft microdomains (LRMs) isolated from brain myelin. In mutants, PLs were completely absent and the concentration of brain DHA was reduced. The marker proteins flotillin-1 and F3/contactin were found in brain LRMs in reduced concentrations. In addition, the gap junctional protein connexin 43, known to be recruited to LRMs and essential for lens development and spermatogenesis, was down-regulated in embryonic fibroblasts of the EL-deficient mice. Free cholesterol, an important constituent of LRMs, was found in these fibroblasts to be accumulated in a perinuclear compartment. These data suggest that the EL-deficient mice allow the identification of new phenotypes not related so far to EL-deficiency (male sterility, defects in myelination and optic nerve hypoplasia) and indicate that PLs are required for the correct assembly and function of LRMs. (+info)Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. (6/23)
Rhizomelic chondrodysplasia punctata is a human autosomal recessive disorder characterized by skeletal, eye and brain abnormalities. The disorder is caused by mutations in the PEX7 gene, which encodes the receptor for a class of peroxisomal matrix enzymes. We describe the generation and characterization of a Pex7 mouse knockout (Pex7(-/-)). Pex7(-/-) mice are born severely hypotonic and have a growth impairment. Mortality in Pex7(-/-) mice is highest in the perinatal period although some Pex7(-/-) mice survived beyond 18 months. Biochemically Pex7(-/-) mice display the abnormalities related to a Pex7 deficiency, i.e. a severe depletion of plasmalogens, impaired alpha-oxidation of phytanic acid and impaired beta-oxidation of very-long-chain fatty acids. In the intermediate zone of the developing cerebral cortex Pex7(-/-) mice have an increase in neuronal density. In vivo neuronal birthdating revealed that Pex7(-/-) mice have a delay in neuronal migration. Analysis of bone ossification in newborn Pex7(-/-) mice revealed a defect in ossification of distal bone elements of the limbs as well as parts of the skull and vertebrae. These findings demonstrate that Pex7 knockout mice provide an important model to study the role of peroxisomal functioning in the pathogenesis of the human disorder. (+info)The import receptor Pex7p and the PTS2 targeting sequence. (7/23)
This chapter concerns one branch of the peroxisome import pathway for newly-synthesized peroxisomal proteins, specifically the branch for matrix proteins that contain a peroxisome targeting sequence type 2 (PTS2). The structure and utilization of the PTS2 are discussed, as well as the properties of the receptor, Pex7p, which recognizes the PTS2 sequence and conveys these proteins to the common translocation machinery in the peroxisome membrane. We also describe the recent evidence that this receptor recycles into the peroxisome matrix and back out to the cytosol in the course of its function. Pex7p is assisted in its functioning by several species-specific auxiliary proteins that are described in the following chapter. (+info)Peroxisome biogenesis disorders. (8/23)
Defects in PEX genes impair peroxisome assembly and multiple metabolic pathways confined to this organelle, thus providing the biochemical and molecular bases of the peroxisome biogenesis disorders (PBD). PBD are divided into two types--Zellweger syndrome spectrum (ZSS) and rhizomelic chondrodysplasia punctata (RCDP). Biochemical studies performed in blood and urine are used to screen for the PBD. DNA testing is possible for all of the disorders, but is more challenging for the ZSS since 12 PEX genes are known to be associated with this spectrum of PBD. In contrast, PBD-RCDP is associated with defects in the PEX7 gene alone. Studies of the cellular and molecular defects in PBD patients have contributed significantly to our understanding of the role of each PEX gene in peroxisome assembly. (+info)
Rhizomelic chondrodysplasia punctata type 1: Report of mutations in 3 children from India<...
Rhizomelic chondrodysplasia punctata - Genetics Home Reference
Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder<...
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2...
Rhizomelic Shortening of the Upper Limbs Causes & Reasons - Symptoma
Chondrodysplasia Punctata, Tibia-Metacarpal Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Chondrodysplasia punctata | pathology | Britannica.com
JCI -
Peripheral nervous system plasmalogens regulate Schwann cell differentiation
and myelination
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype. - Semantic Scholar
Chondrodysplasia Punctata in Children: Causes, Symptoms, Diagnosis and Treatment | St. Louis Childrens Hospital
List of variants studied for X-linked chondrodysplasia punctata by Genomic Research Center, Shahid Beheshti University of...
Chondrodysplasia punctata
The gene of an orphan enzyme identified
Fred Lanting | Fred Lanting
Dog Chondrodysplasia Manchester NH - Dog Chondrodysplasia, Manchester NH dog adoption, Manchester NH dog care, Manchester NH ...
Dog Chondrodysplasia Bellingham WA - Dog Chondrodysplasia, Bellingham WA dog adoption, Bellingham WA dog care, Bellingham WA ...
Gene Ontology Classifications
Evidence of Postzygotic Mosaicism in a Transmitted Form of Conradi-H ünermann-Happle Syndrome Associated With a Novel EBP...
Chondrodysplasia - DogWellNet.com
Keutel syndrome - Wikipedia
Open-Label Study of Omega 3 Oil Supplementation for Aging-Related Cognitive Decline - Full Text View - ClinicalTrials.gov
Pelidnota punctata, Grapevine Beetle image
Puccinia punctata var. punctata - Wikispecies
Pelidnota punctata, Grapevine beetle image
Chondrodysplasia: Underlying Cause
לפי תגית | מרכז הידע הישראלי להערכות לשינויי אקלים
Classification |
USDA PLANTS
Quality Laurocapram on Sale/ CAS: 59227-89-3/Laurocapram Supplier/Pharmaceutical Intermediate (Clomiphene citrate, Tamoxifen...
Chondrodysplasia, Grebe type | Connective Tissue Gene Tests
Chondrodystrophy (CDDY) and Chondrodysplasia (CDPA) | Bulls of Crown
Ziekte van Alzheimer - Functie van plasmalogenen in gezondheid en ziekte - Rol van alkylglycerol - TakeCare
First records of <em>Landoltia punctata</em> (G.Mey.) Les & D.J.Crawford (Araceae, Lemnoideae) in Santa Catarina,...
Leukonychia Punctata: Causes & Diagnoses | Symptoma.com
Gayfeather | Liatris punctata | High Country Gardens
SEINet Portal Network - Eriochloa montevidensis
PEX2 gene - Genetics Home Reference
Phyllorhiza punctata - Wikipedia
LABOKLIN (UK)| Genetic Diseases | Dogs| Chondrodystrophy (CDDY with IVDD Risk) and Chondrodysplasia (CDPA)
CONCEPT Achondroplasia
IJMS | Free Full-Text | Noncanonical Reactions of Flavoenzymes | HTML
Spotted Bee Balm (Monarda punctata)
- Lacewing Plants
Chondrodysplasia of Texel sheep : a thesis presented in partial fulfillment of the requirements for the degree of Doctor of...
Medical Abbreviations - WAP
Fluorescent Frogs: A Herpetological Perspective | Semantic Scholar
A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders | Disease Models & Mechanisms
Metaphyseal Chondrodysplasia, Schmid Type - NORD (National Organization for Rare Disorders)
Peroxisomal disorders facts, information, pictures | Encyclopedia.com articles about Peroxisomal disorders
Parapercis punctata
2020 ICD-10-CM Diagnosis Code E71.5: Peroxisomal disorders
Medical Abbreviations - AHSG
Plasmalogen
Rhizomelic Chondrodysplasia Punctata Type 1. Authors Braverman NE, Moser AB, Steinberg SJ. Editors In: Pagon RA, Adam MP, Bird ... which lead to the development of rhizomelic chondrodysplasia punctata (RCDP) type 2 or 3, respectively. In such cases, both ...
List of OMIM disorder codes
FOXO1A Rhizomelic chondrodysplasia punctata type 1; 215100; PEX7 Rhizomelic chondrodysplasia punctata type 3; 600121; AGPS ... rhizomelic, type 2; 222765; GNPAT Chondrodysplasia punctata, X-linked dominant; 302960; EBP Chondrodysplasia punctata, X-linked ... RP9 Retinitis punctata albescens; 136880; PRPH2 Retinitis punctata albescens; 136880; RLBP1 Retinopathy of prematurity; 133780 ... recessive; 302950; ARSE Chondrodysplasia, Blomstrand type; 215045; PTHR1 Chondrodysplasia, Grebe type; 200700; GDF5 ...
Rhizomelia
Rhizomelic chondrodysplasia punctata "Archived copy". Archived from the original on 2007-04-28. Retrieved 2007-04-26.CS1 maint ... According to Stedman's medical dictionary "rhizomelic" means "relating to hip or shoulder joints", while "micromelic" means " ...
Glyceronephosphate O-acyltransferase
... is an enzyme associated with Rhizomelic chondrodysplasia punctata type 2. GNPAT is located ...
Peroxisomal disorder
... and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum ... "Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata". Nature Genetics ...
Peroxin-7
... is a receptor associated with Refsum's disease and rhizomelic chondrodysplasia punctata type 1. Peroxin GeneReviews/ ... NCBI/NIH/UW entry on Refsum Disease GeneReviews/NIH/NCBI/UW entry on Rhizomelic Chondrodysplasia Punctata Type 1 PEX7+protein,+ ...
Refsum disease
These mutations in the PEX7 gene generally lead to rhizomelic chondrodysplasia punctata type 1- which impairs development of ...
List of skin conditions
Relapsing linear acantholytic dermatosis Restrictive dermopathy Rhizomelic chondrodysplasia punctata (autosomal recessive ... porokeratosis punctata palmaris et plantaris, punctate keratoderma, punctate porokeratosis of the palms and soles) Tyrosinemia ... hyperkeratosis punctata, keratodermia punctata, keratosis punctata, keratotic pits of the palmar creases, lenticular atrophia ... chondrodysplasia punctata type 1, chondrodystrophia calcificans punctata, peroxisomal biogenesis disorder complementation group ...
List of MeSH codes (C05)
... chondrodysplasia punctata MeSH C05.116.099.708.195.200 - chondrodysplasia punctata, rhizomelic MeSH C05.116.099.708.207 - ...
Alkylglycerone phosphate synthase
... is an enzyme associated with Type 3 Rhizomelic chondrodysplasia punctata. This enzyme catalyses the following chemical reaction ...
List of MeSH codes (C18)
... chondrodysplasia punctata, rhizomelic MeSH C18.452.648.556.750.760 - Refsum disease MeSH C18.452.648.556.750.970 - Zellweger ...
List of MeSH codes (C16)
... chondrodysplasia punctata, rhizomelic MeSH C16.320.565.556.750.760 - Refsum disease MeSH C16.320.565.556.750.970 - Zellweger ...
Chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata 215100, 222765, 600121 X-linked recessive chondrodysplasia punctata 302950 Conradi- ... chondrodysplasia punctata 2, x-linked dominant) 302960 Autosomal dominant chondrodysplasia punctata 118650 List of cutaneous ... Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Erich Conradi ( ...
Rhizomelic chondrodysplasia punctata
... , TYPE 2; RCDP2". omim.org. Retrieved 16 January 2017. "OMIM Entry - # 600121 - RHIZOMELIC ... The mechanism of rhizomelic chondrodysplasia punctata in the case of type 1 of this condition one finds that peroxisome ... "Rhizomelic chondrodysplasia punctata type 1 - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 23 January 2017. "OMIM ... Rhizomelic chondrodysplasia punctata has the following symptoms: Bilateral shortening of the femur Post-natal growth problems ( ...
Osteochondroprogenitor cell
Chondrodysplasia punctata. *Rhizomelic chondrodysplasia punctata. *Conradi-Hünermann syndrome. Other dwarfism. * ... Chondrodysplasia/. chondrodystrophy. (including dwarfism). Osteochondroma. *osteochondromatosis *Hereditary multiple exostoses ...
Ellis-van Creveld syndrome
Chondrodysplasia punctata. *Rhizomelic chondrodysplasia punctata. *Conradi-Hünermann syndrome. Other dwarfism. * ... Chondrodysplasia/. chondrodystrophy. (including dwarfism). Osteochondroma. *osteochondromatosis *Hereditary multiple exostoses ... Ellis, R. W. B.; van Creveld, S.: A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and ...
Achondrogenesis
Chondrodysplasia punctata. *Rhizomelic chondrodysplasia punctata. *Conradi-Hünermann syndrome. Other dwarfism. * ... Chondrodysplasia/. chondrodystrophy. (including dwarfism). Osteochondroma. *osteochondromatosis *Hereditary multiple exostoses ... Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia (malformation of bones ...
Thanatophoric dysplasia
Chondrodysplasia punctata. *Rhizomelic chondrodysplasia punctata. *Conradi-Hünermann syndrome. Other dwarfism. * ... Chondrodysplasia/. chondrodystrophy. (including dwarfism). Osteochondroma. *osteochondromatosis *Hereditary multiple exostoses ...
Osteogenesis imperfecta
Chondrodysplasia punctata. *Rhizomelic chondrodysplasia punctata. *Conradi-Hünermann syndrome. Other dwarfism. * ... Chondrodysplasia/. chondrodystrophy. (including dwarfism). Osteochondroma. *osteochondromatosis *Hereditary multiple exostoses ...
Refsum disease
These mutations in the PEX7 gene generally lead to rhizomelic chondrodysplasia punctata type 1- which impairs development of ...
Rhizomelic chondrodysplasia punctata: MedlinePlus Genetics
Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. Explore ... medlineplus.gov/genetics/condition/rhizomelic-chondrodysplasia-punctata/ Rhizomelic chondrodysplasia punctata. ... Genetic Testing Registry: Rhizomelic chondrodysplasia punctata type 1 *Genetic Testing Registry: Rhizomelic chondrodysplasia ... Rhizomelic chondrodysplasia punctata results from mutations in one of three genes. Mutations in the PEX7 gene, which are most ...
Rhizomelic chondrodysplasia punctata - Wikipedia
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2". omim.org. Retrieved 16 January 2017. "OMIM Entry - # 600121 - RHIZOMELIC ... The mechanism of rhizomelic chondrodysplasia punctata in the case of type 1 of this condition one finds that peroxisome ... "Rhizomelic chondrodysplasia punctata type 1 - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 23 January 2017. "OMIM ... Rhizomelic chondrodysplasia punctata has the following symptoms: Bilateral shortening of the femur Post-natal growth problems ( ...
Rhizomelic chondrodysplasia punctata type 1 - SNPedia
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia...
Chondrodysplasia Punctata, Rhizomelic / genetics, metabolism, pathology*. Cricetinae. Fibroblasts / metabolism, pathology. ... A defect in the alkyl-phospholipid biosynthetic pathway causes a peroxisomal disorder, rhizomelic chondrodysplasia punctata ( ... Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia ...
Fig 4. | MR Imaging and MR Spectroscopy in Rhizomelic Chondrodysplasia Punctata | American Journal of Neuroradiology
MR Imaging and MR Spectroscopy in Rhizomelic Chondrodysplasia Punctata. Angèle Viola, Sylviane Confort-Gouny, Jean-Philippe ... MR Imaging and MR Spectroscopy in Rhizomelic Chondrodysplasia Punctata. Angèle Viola, Sylviane Confort-Gouny, Jean-Philippe ... MR Imaging and MR Spectroscopy in Rhizomelic Chondrodysplasia Punctata. Angèle Viola, Sylviane Confort-Gouny, Jean-Philippe ... MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata ...
Determination of molecular mechanism underlying peroxisomal disorder rhizomelic chondrodysplasia punctata type 1 (Press Release...
1 Rhizomelic chondrodysplasia punctata type 1 (RCDP-1). RCDP-1 is caused by the dysfunction of Pex7, a protein that recognizes ... These findings provide the molecular and structural bases for the diagnosis of rhizomelic chondrodysplasia punctata type 1 ( ... Determination of molecular mechanism underlying peroxisomal disorder rhizomelic chondrodysplasia punctata type 1 (Press Release ... rhizomelic chondrodysplasia punctata type 1 (RCDP-1)*1. This research was supported by the Targeted Proteins Research Program ...
ISRCTN - ISRCTN44820021: Alcohol supplementation in rhizomelic chondrodysplasia punctata in the Netherlands
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2...
... causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3",. abstract = "Rhizomelic chondrodysplasia punctata (RCDP) is ... N2 - Rhizomelic chondrodysplasia punctata (RCDP) is a disorder of peroxisome metabolism resulting from a deficiency of ... AB - Rhizomelic chondrodysplasia punctata (RCDP) is a disorder of peroxisome metabolism resulting from a deficiency of ... Rhizomelic chondrodysplasia punctata (RCDP) is a disorder of peroxisome metabolism resulting from a deficiency of plasmalogens ...
Rhizomelic chondrodysplasia punctata, type 3 | Connective Tissue Gene Tests
Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterized by disproportionate ... Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterized by disproportionate ... The punctate calcifications generally resolve by one year of age leaving abnormal epiphyses and flared, irregular metaphyses. ... Radiographs of infants with RCDP show punctate calcifications in the epiphyseal cartilage and coronal clefts of the vertebral ...
Rhizomelic chondrodysplasia punctata type 1 | Connective Tissue Gene Tests
Rhizomelic chondrodysplasia punctata type 1 (RCDP1; MIM 215100) is an autosomal recessive peroxisomal disorder characterized by ... Rhizomelic chondrodysplasia punctata type 1 (RCDP1; MIM 215100) is an autosomal recessive peroxisomal disorder characterized by ... The punctate calcifications generally resolve by one year of age leaving abnormal epiphyses and flared, irregular metaphyses. ... Radiographs of infants with RCDP1 show punctate calcifications in the epiphyseal cartilage and coronal clefts of the vertebral ...
Rhizomelic chondrodysplasia punctata type 3 - RCDP3 Archives - Amsterdam UMC Genome Diagnostics
Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder<...
Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder. / Nayak, S. S.; Adiga ... Nayak, S. S. ; Adiga, P. K. ; Rai, L. ; Girisha, K. M. / Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal ... Nayak, S. S., Adiga, P. K., Rai, L., & Girisha, K. M. (2012). Severe rhizomelic chondrodysplasia punctata in a fetus due to ... Nayak, SS, Adiga, PK, Rai, L & Girisha, KM 2012, Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed ...
Rhizomelic chondrodysplasia punctata | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
... and questions answered by our Genetic and Rare Diseases Information Specialists for Rhizomelic chondrodysplasia punctata ... Rhizomelic chondrodysplasia punctata type 1; Rhizomelic chondrodysplasia punctata type 2; Rhizomelic chondrodysplasia punctata ... Rhizomelic chondrodysplasia punctata (RCDP) is a type of peroxisomal disorder which impairs the normal development of many ... Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Rhizomelic chondrodysplasia punctata in ...
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RCP - Heaven's Special Children
Rhizomelic Chondrodysplasia Punctata *What is RCP *What Causes RCP *How RCP Is Inherited *The Care Of A Child With RCP *Coping ... Most of the information on this page was taken from a book called: "Rhizomelic Chondrodysplasia Punctata" A Booklet For ... Rhizomelic: The proximal (those closest to the body) segments of the arms and legs. Chondrodysplasia: Abnormal growth of the ... Punctata: The spotting or stippling observed near the epiphyses (the growing ends) of the bones on X-ray. RCP is a genetic ...
Rhizomelic chondrodysplasia punctata type 1 | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
... and questions answered by our Genetic and Rare Diseases Information Specialists for Rhizomelic chondrodysplasia punctata type 1 ... Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have ... Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a condition that impairs the normal development of many parts of the ... Genetics Home Reference (GHR) contains information on Rhizomelic chondrodysplasia punctata type 1. This website is maintained ...
Rhizomelic chondrodysplasia punctata type 1: Report of mutations in 3 children from India<...
Rhizomelic chondrodysplasia punctata is a rare autosomal recessive disorder characterized by stippled epiphyses and rhizomelic ... "Rhizomelic chondrodysplasia punctata is a rare autosomal recessive disorder characterized by stippled epiphyses and rhizomelic ... Rhizomelic chondrodysplasia punctata is a rare autosomal recessive disorder characterized by stippled epiphyses and rhizomelic ... Rhizomelic chondrodysplasia punctata is a rare autosomal recessive disorder characterized by stippled epiphyses and rhizomelic ...
Rareshare
What is Rhizomelic Chondrodysplasia Punctata? Rhizomelic Chondrodysplasia Punctata is a rare disorder characterized by dwarfism ... Rhizomelic Chondrodysplasia Punctata community discussions will be posted here. There are no new discussions. Start one now!! ... Rhizomelic Chondrodysplasia Punctata community discussions will be posted here. There are no new discussions. Start one now!! ... Rhizomelic Chondrodysplasia Punctata is a rare disorder characterized by dwarfism due to shortening of the proximal bones. ...
A Case of Rhizomelic Chondrodysplasia Punctata Occurring in Siblings | Korean Journal of Pediatrics;: 1016-1019, 2004. |...
A Case of Rhizomelic Chondrodysplasia Punctata Occurring in Siblings A Case of Rhizomelic Chondrodysplasia Punctata Occurring ... We report a case of rhizomelic chondrodysplasia punctata occurring in siblings diagnosed by clinical and radiological criteria ... Chondrodysplasia punctata is a group of heterogeneous bone dysplasia characterized by punctate calcifications of the cartilage ... The rhizomelic form of chondrodysplasia puntata is rare, the prognosis is bad and death usually occurs within the first year of ...
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Chondrodysplasia Punctata 1, X-Linked - GeneReviews® - NCBI Bookshelf
... is characterized by chondrodysplasia punctata (stippled epiphyses), brachytelephalangy (shortening of the distal phalanges), ... can cause CDP with rhizomelic limb shortening. ... X-linked chondrodysplasia punctata 1 (CDPX1) is inherited in an ... Review Chondrodysplasia Punctata 2, X-Linked[GeneReviews®. 1993]. Review Chondrodysplasia Punctata 2, X-Linked. Kumble S, ... CDP = chondrodysplasia punctata; CDPX1 = chondrodysplasia punctata 1, X-linked; MOI= mode of inheritance ...
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD) - Tabular View - ClinicalTrials.gov
Peroxisomal Disorders Clinical Presentation: History
Rhizomelic chondrodysplasia punctata 1. *. RCDP type 1 is a heterogenous group of disorders that is clinically distinct from ... Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor. Nat Genet. ... Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet. 1997 ... or type II rhizomelic chondrodysplasia punctata [RCPD]), alkyl-DHAP synthase deficiency (ie, type III RCDP), glutaric aciduria ...
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Zellweger Spectrum Disorder
"Rhizomelic chondrodysplasia punctata type 1". GeneReviews at GeneTests: Medical Genetics Information Resource (database online ... 2. Rhizomelic Chondrodysplasia Punctata type 1 (RCDP1). Zellweger Spectrum Disorder. For ZSD, the manifestations depend on ... Rhizomelic chondrodysplasia punctata. RCDP presents in the neonatal period with a characteristic skeletal dysplasia. On exam, ... Skeletal x-rays show vertebral coronal clefts and generalized epiphyseal calcific stippling, called chondrodysplasia punctata ( ...
A Missense Mutation of G257A at Exon 3 in PEX7 CDS Was Responsible for the Incidence of Rhizomelic Chondrodysplasia Punctata...
Background Rhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessive peroxisome biogenesis ... Rhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessive peroxisome biogenesis disorders ... "A Missense Mutation of G257A at Exon 3 in PEX7 CDS Was Responsible for the Incidence of Rhizomelic Chondrodysplasia Punctata ... A Missense Mutation of G257A at Exon 3 in PEX7 CDS Was Responsible for the Incidence of Rhizomelic Chondrodysplasia Punctata ...
RCDP16
- A defect in the alkyl-phospholipid biosynthetic pathway causes a peroxisomal disorder, rhizomelic chondrodysplasia punctata (RCDP), and defective biogenesis of peroxisomes causes Zellweger syndrome, both of which are lethal genetic diseases with multiple clinical phenotypes such as psychomotor defects, mental retardation, and skeletal abnormalities. (biomedsearch.com)
- These findings provide the molecular and structural bases for the diagnosis of rhizomelic chondrodysplasia punctata type 1 (RCDP-1) and for the development of new medical treatments of this disease. (or.jp)
- The research group of Prof. Hiroaki Kato (also, a visiting scientist at RIKEN) and Dr. Dongqing Pan (research scientist, a graduate student at the time of this research), of the Graduate School of Pharmaceutical Sciences, Kyoto University (President, Hiroshi Matsumoto), has determined the molecular mechanism underlying a severe peroxisomal disorder, rhizomelic chondrodysplasia punctata type 1 (RCDP-1) *1 . (or.jp)
- Plasmalogens can be synthesised out of batyl alcohol (naturally occuring alkylglycerol) in patients with the peroxisomal disorder Rhizomelic Chondro-Dypslasia Punctata (RCDP), bypassing the peroxisomal steps in the pathway. (isrctn.com)
- Rhizomelic chondrodysplasia punctata (RCDP) is a disorder of peroxisome metabolism resulting from a deficiency of plasmalogens, a specialized class of membrane phospholipids. (elsevier.com)
- Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterized by disproportionate short stature with rhizomelic limb shortening, congenital cataracts, distinct facial features, severe intellectual disability, and seizures. (ctgt.net)
- Radiographs of infants with RCDP show punctate calcifications in the epiphyseal cartilage and coronal clefts of the vertebral bodies. (ctgt.net)
- Rhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessive peroxisome biogenesis disorders caused by mutations in the PEX7 gene. (ac.ir)
- There are four PBDs - Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD) and rhizomelic chondrodysplasia punctata (RCDP). (pacifier.com)
- In addition, genetic mutations in the GNPAT or AGPS genes can result in plasmalogen deficiencies, which lead to the development of rhizomelic chondrodysplasia punctata (RCDP) type 2 or 3, respectively. (wikipedia.org)
- Plasmalogens are a special class of ether-phospholipids, best recognized by their vinyl-ether bond at the sn-1 position of the glycerobackbone and by the observation that their deficiency causes rhizomelic chondrodysplasia punctata (RCDP). (biomedsearch.com)
- rhizomelic chondrodysplasia punctata (RCDP), which in its most severe form is fatal within the first year or two of life. (encyclopedia.com)
- The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). (abcam.com)
- Their biosynthesis starts in peroxisomes, and defects at these steps cause the malformation syndrome, Rhizomelic Chondrodysplasia Punctata (RCDP). (nih.gov)
- Novel mutations in AGPS (alkylglycerone-phosphate synthase ) cause rhizomelic chondrodysplasia (show COL11A1 ELISA Kits ) punctata (RCDP) type 3. (antibodies-online.com)
- When Jude was just 2 days old, he went for some testing at the hospital and Hannah and Sully were told by doctors that they believed the form of skeletal dysplasia he had was the lethal form of RCDP (Rhizomelic Chondrodysplasia Punctata). (gofundme.com)
Type8
- Researchers have described three types of rhizomelic chondrodysplasia punctata: type 1 (RCDP1), type 2 (RCDP2), and type 3 (RCDP3). (medlineplus.gov)
- The mechanism of rhizomelic chondrodysplasia punctata in the case of type 1 of this condition one finds that peroxisome objective is PEX7, in peroxisome assembly. (wikipedia.org)
- Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. (cdc.gov)
- Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is caused by mutations in the PEX7 gene. (snpedia.com)
- Defects in PEX7 are the cause of rhizomelic chondrodysplasia punctata type 1 (RCDP1) [MIM:215100]. (abcam.com)
- Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. (antibodies-online.com)
- These mutations in the PEX7 gene generally lead to rhizomelic chondrodysplasia punctata type 1- which impairs development of many parts of the body. (wikipedia.org)
- Chondrodysplasia Punctata, Tibia-Metacarpal Type, also known as chondrodysplasia punctata, tibial-metacarpal type , is related to chondrodysplasia punctata syndrome and otitis media . (malacards.org)
Classical rhizomelic chondrod3
- The other clinical spectrum of the PBD is represented by classical rhizomelic chondrodysplasia punctata. (pnas.org)
- This disease also is characterized by multisystem defects, mental retardation, and death in early infancy although classical rhizomelic chondrodysplasia punctata patients are defective in only PTS2 protein import ( 6 , 7 ). (pnas.org)
- Cell fusion complementation studies have established nine complementation groups (CG) for the Zellweger spectrum of diseases whereas classical rhizomelic chondrodysplasia punctata cells are confined to a single complementation group ( 8 ). (pnas.org)
Autosomal2
- Rhizomelic chondrodysplasia punctata is a rare autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones. (elsevier.com)
- An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. (bioportfolio.com)
Dysplasia1
- Chondrodysplasia punctata is a group of heterogeneous bone dysplasia characterized by punctate calcifications of the cartilage , frequently associated with a shortening of the limbs , cataracts , icthyosis and alopecia , alterations of the nervous system , and mental and growth deficiencies. (bvsalud.org)
PEX73
- Rhizomelic chondrodysplasia punctata has the following symptoms: Bilateral shortening of the femur Post-natal growth problems (deficiency) Cataracts Intellectual disability Possible seizures Possible infections of respiratory tract This condition is a consequence of mutations in the PEX7 gene, the GNPAT gene (which is located on chromosome 1) or the AGPS gene. (wikipedia.org)
- There are 3 pathways that count on PEX7 and are: AGPS (catalyzes plasmalogen biosynthesis) PhYH (catalyzes catabolism of phytanic acid) ACAA1 (catalyzes beta-oxidation of VLCFA - straight) The diagnosis of rhizomelic chondrodysplasia punctata can be based on genetic testing as well as radiography results, plus a physical examination of the individual. (wikipedia.org)
- We report 3 subjects of rhizomelic chondrodysplasia punctata from India and the PEX7 mutations identified in them. (elsevier.com)
Mutations2
- Rhizomelic chondrodysplasia punctata results from mutations in one of three genes. (medlineplus.gov)
- Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. (genecards.org)
Cause rhizomelic1
- Maternal systemic lupus erythematosus and autoimmune diseases have been extremely rarely reported to cause rhizomelic chondrodysplasia punctata. (elsevier.com)
Zellweger2
- Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata. (biomedsearch.com)
- Peroxisome assembly disorders including Zellweger syndrome and rhizomelic chondrodysplasia punctata are caused by genetic defects in PEX genes and the altering of their proteins, peroxins, which are necessary for the importation of targeted proteins into the peroxisomes. (elsevier.com)
Syndrome2
- Plasmalogens and fatty alcohols in rhizomelic chondrodysplasia punctata and Sjögren-Larsson syndrome. (biomedsearch.com)
- Conradi-Hunermann syndrome , also known as X-linked dominant chondrodysplasia punctata , is caused by defects in the EPB gene. (snpedia.com)
RCDP11
- RCDP1 is characterized by rhizomelic shortening of femur and humerus, vertebral disorders, cataract, cutaneous lesions and severe mental retardation. (abcam.com)
Genes2
- The genes associated with rhizomelic chondrodysplasia punctata are involved in the formation and function of structures called peroxisomes . (medlineplus.gov)
- Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Rhizomelic chondrodysplasia punctata in a table called Phenotypic Series. (cdc.gov)
Cartilage3
- Chondrodysplasia: Abnormal growth of the cartilage. (angelfire.com)
- X-rays can confirm the rhizomelic shortening and will also show stippling of various epiphyseal areas including the shoulder, elbow, hip, knee, and ankle joints, spine, and airway cartilage. (angelfire.com)
- There are various types of chondrodysplasias , which affect growth of bone and cartilage. (snpedia.com)
Spinal1
- MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. (springer.com)
Epiphyses4
- The punctate calcifications generally resolve by one year of age leaving abnormal epiphyses and flared, irregular metaphyses. (ctgt.net)
- Punctata: The spotting or stippling observed near the epiphyses (the growing ends) of the bones on X-ray. (angelfire.com)
- X-linked chondrodysplasia punctata 1 (CDPX1) is characterized by chondrodysplasia punctata (stippled epiphyses), brachytelephalangy (shortening of the distal phalanges), and nasomaxillary hypoplasia. (nih.gov)
- Chondrodysplasia punctata (stippled epiphyses) are observed on skeletal x-rays in infancy, usually of the ankle and distal phalanges, although they can be more generalized to include epiphyses of long bones, vertebrae, hips, costochondral junctions, and hyoid bone. (nih.gov)
Disorders1
- A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe mental retardation with spasticity. (expasy.org)
Bilateral1
- Image shows rhizomelic shortening of the bilateral femurs with metaphyseal flaring. (medscape.com)
Disorder characterized2
- Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections and congenital cataracts. (wikipedia.org)
- Rhizomelic Chondrodysplasia Punctata is a rare disorder characterized by dwarfism due to shortening of the proximal bones. (rareshare.org)
Severe2
- Rhizomelic chondrodysplasia punctata is associated with significantly delayed development and severe intellectual disability. (medlineplus.gov)
- Because of their severe health problems, most people with rhizomelic chondrodysplasia punctata survive only into childhood. (medlineplus.gov)
Epiphyseal1
- Skeletal x-rays show vertebral coronal clefts and generalized epiphyseal calcific stippling, called chondrodysplasia punctata (CDP). (psychiatryadvisor.com)
Impairs1
- Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. (medlineplus.gov)
Neonatal1
- According to his family history , his brother , who had the same characteristic face and punctate calcification at the neonatal period, died at the age of six months due to respiratory failure . (bvsalud.org)
Bone1
- Affected individuals also have a specific bone abnormality called chondrodysplasia punctata, which affects the growth of the long bones and can be seen on x-rays. (medlineplus.gov)
Clinical3
- Irving MD, Chitty LS, Mansour S, Hall CM. Chondrodysplasia punctata: a clinical diagnostic and radiological review. (medlineplus.gov)
- We report a case of rhizomelic chondrodysplasia punctata occurring in siblings diagnosed by clinical and radiological criteria. (bvsalud.org)
- X-linked chondrodysplasia punctata 1 (CDPX1) should be suspected in a male proband with the following clinical and radiographic findings. (nih.gov)
Form2
- The rhizomelic form of chondrodysplasia puntata is rare, the prognosis is bad and death usually occurs within the first year of age. (bvsalud.org)
- Group 1 is represented by a cell line from a patient with the rhizomelic form of chondrodysplasia punctata. (jci.org)
Skeletal1
- Skeletal radiographies showed punctate calcification and stippling on femurs , lumbar vertebral bodies and vertebral coronal cleft. (bvsalud.org)
Contractures1
- People with rhizomelic chondrodysplasia punctata often develop joint deformities (contractures) that make the joints stiff and painful. (medlineplus.gov)
Symptoms2
- Researchers are working to determine how problems with plasmalogen synthesis lead to the specific signs and symptoms of rhizomelic chondrodysplasia punctata. (medlineplus.gov)
- Symptoms for Rhizomelic Chondrodysplasia Punctata has not been added yet. (rareshare.org)
Humerus1
- Image shows rhizomelic shortening of the humerus with posterior bowing and an incomplete glenoid fossa. (medscape.com)
Diagnosis1
- Diagnosis of Rhizomelic Chondrodysplasia Punctata has not been added yet. (rareshare.org)
Findings1
- Our case presented findings of the rhizomelic chodrodysplasia punctata a characteristic face , a sucking difficulty and a short neck . (bvsalud.org)
Facial features1
- Distinctive facial features are also seen with rhizomelic chondrodysplasia punctata. (medlineplus.gov)