Hand Deformities, Congenital
Foot Deformities, Congenital
Limb Deformities, Congenital
Receptor Tyrosine Kinase-like Orphan Receptors
A family of cell surface receptors that were originally identified by their structural homology to neurotropic TYROSINE KINASES and referred to as orphan receptors because the associated ligand and signaling pathways were unknown. Evidence for the functionality of these proteins has been established by experiments showing that disruption of the orphan receptor genes results in developmental defects.
Toe Phalanges
Growth Differentiation Factor 5
Fibrous Dysplasia, Polyostotic
Synostosis
Maxillofacial Abnormalities
Pedigree
Foot Bones
The TARSAL BONES; METATARSAL BONES; and PHALANGES OF TOES. The tarsal bones consists of seven bones: CALCANEUS; TALUS; cuboid; navicular; internal; middle; and external cuneiform bones. The five metatarsal bones are numbered one through five, running medial to lateral. There are 14 phalanges in each foot, the great toe has two while the other toes have three each.
Pseudohypoparathyroidism
A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.
Foot
Chromosomes, Human, Pair 2
Bone Morphogenetic Protein Receptors, Type I
Chromosomes, Human, Pair 12
Genes, Dominant
Intellectual Disability
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Hand
Phenotype
Bone Morphogenetic Proteins
Bone-growth regulatory factors that are members of the transforming growth factor-beta superfamily of proteins. They are synthesized as large precursor molecules which are cleaved by proteolytic enzymes. The active form can consist of a dimer of two identical proteins or a heterodimer of two related bone morphogenetic proteins.
Molecular Medicine
Pharmacology, Clinical
Nephrology
Molecular Biology
Consent Forms
Documents describing a medical treatment or research project, including proposed procedures, risks, and alternatives, that are to be signed by an individual, or the individual's proxy, to indicate his/her understanding of the document and a willingness to undergo the treatment or to participate in the research.
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.
Informed Consent
Syndactyly
A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.
Hypophosphatasia
A genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)
Kleine-Levin Syndrome
A rare condition characterized by recurrent hypersomnias associated with hyperphagia, occurring primarily in males in the second to third decade of life. Clinical features include mental confusion, excessive sleep requirements (approximately 18 hours per day), restlessness, and in some cases hallucinations. Episodes have a duration of days to weeks, and may recur several times per year. This condition may resolve spontaneously over several years. (From Adams, et al., Principles of Neurology, 6th ed, p569)
De Lange Syndrome
A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)
Myasthenia Gravis, Neonatal
A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)
Hypersomnolence, Idiopathic
A sleep disorder of central nervous system origin characterized by prolonged nocturnal sleep and periods of daytime drowsiness. Affected individuals experience difficulty with awakening in the morning and may have associated sleep drunkenness, automatic behaviors, and memory disturbances. This condition differs from narcolepsy in that daytime sleep periods are longer, there is no association with CATAPLEXY, and the multiple sleep latency onset test does not record sleep-onset rapid eye movement sleep. (From Chokroverty, Sleep Disorders Medicine, 1994, pp319-20; Psychiatry Clin Neurosci 1998 Apr:52(2):125-129)
Addison Disease
An adrenal disease characterized by the progressive destruction of the ADRENAL CORTEX, resulting in insufficient production of ALDOSTERONE and HYDROCORTISONE. Clinical symptoms include ANOREXIA; NAUSEA; WEIGHT LOSS; MUSCLE WEAKNESS; and HYPERPIGMENTATION of the SKIN due to increase in circulating levels of ACTH precursor hormone which stimulates MELANOCYTES.
Myasthenia Gravis
A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the NEUROMUSCULAR JUNCTION, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)
Encyclopedias as Topic
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)
Organizations, Nonprofit
MedlinePlus
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.
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. (1/20)
(+info)Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels. (2/20)
(+info)Brachydactylia associated with mitochondrial disorder in an octogenarian. (3/20)
In a 80yo female with acute pancreatitis, myopathy, polyneuropathy, short stature, diabetes mellitus, hypothyroidism, hypoacusis, atrial fibrillation, hepatopathy, and renal cysts, mitochondrial disease was diagnosed. The family history for the disease was negative. Interestingly, the patient additionally presented with brachydactylia, which was also found in her son and father and has not been reported in association with mitochondrial disease before. Whether the relation between brachydactylia and mitochondrial disease was causal or coincidental remains speculative. (+info)Evaluation of qualitative methods for phenotyping brachymesophalangia-V from radiographs of children. (4/20)
(+info)Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report. (5/20)
(+info)Chondroitin sulfate synthase 1 (Chsy1) is required for bone development and digit patterning. (6/20)
(+info)Pseudohypoparathyroidism presenting with ventricular arrhythmia: a case report. (7/20)
(+info)Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance. (8/20)
(+info)
Hypertension and brachydactyly syndrome - Wikipedia
Metaphyseal dysplasia maxillary hypoplasia brachydactyly | Genetic and Rare Diseases Information Center (GARD) - an...
Maxillary Hypoplasia in Children | Helen DeVos Childrens Hospital
Symbrachydactyly symptoms, treatments & forums | PatientsLikeMe
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I Have Symphalangism Brachydactyly Craniosynostosis
Brachydactyly, Type A1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
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Brachydactyly and Blindness, related diseases and genetic alterations | MENDELIAN.CO
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All Things Belle: What Symbrachydactyly Can Look Like at 5
Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly |...
Spondyloperipheral dysplasia - Conditions - GTR - NCBI
CHSY3 knockout cell line
Teeth noneruption of with maxillary hypoplasia and genu valgum
Summary Report | CureHunter
The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src - ePrints Repository
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Sorsby syndrome | definition of Sorsby syndrome by Medical dictionary
Myhre syndrome - Wikipedia
Indian hedgehog protein
Past and future of neurotrophic growth factors therapies in ALS: From single neurotrophic growth factor to stem cells and human...
ModelDB: CA1 pyr cell: Inhibitory modulation of spatial selectivity+phase precession (Grienberger et al 2017)
JCI -
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PuRe Publications | Max Planck Institute for Molecular Genetics
Gene Expression Literature Summary - MGI
Gene Expression Literature Summary - MGI
CHSY3 - PrimePCR Assay and Template | Life Science | Bio-Rad
Skin Burns: Review of Molecular Mechanisms and Therapeutic Approaches | Wounds Research
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Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype. - Semantic Scholar
Johanson-Blizzard Syndrome - NORD (National Organization for Rare Disorders)
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Clinical Effects of Phosphodiesterase 3A Mutations in Inherited Hypertension With Brachydactyly | Hypertension
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Record 3a
DMOZ - Health: Conditions and Diseases: Musculoskeletal Disorders: Congenital Anomalies: Robinow Syndrome
Brachydactylous Dwarfism Mseleni Type disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
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GDF5
Mutations in this gene are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and ... "Mutations in CDMP1 cause autosomal dominant brachydactyly type C". Nat Genet. 17 (1): 18-9. doi:10.1038/ng0997-18. hdl:2066/ ... gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)". Clin. Genet. 61 (6): 454-8. doi ...
List of OMIM disorder codes
GDF5 Brachydactyly type B1; 113000; ROR2 Brachydactyly type B2; 611377; NOG Brachydactyly type C; 113100; GDF5 Brachydactyly ... SIX1 Brachydactyly type A1; 112500; BDA1B Brachydactyly type A1; 112500; IHH Brachydactyly type A2; 112600; BMPR1B ... type D; 113200; HOXD13 Brachydactyly type E; 113300; HOXD13 Brachydactyly type E2; 613382; PTHLH Brachydactyly-syndactyly ... KIF21A Fibular hypoplasia and complex brachydactyly; 228900; GDF5 Fish-eye disease; 136120; LCAT Fletcher factor deficiency; ...
Fetal warfarin syndrome
A generalized reduction in bone size causes rhizomelia; disproportionally short limbs, brachydactyly; short fingers and toes, a ...
Laurence-Moon syndrome
Brachydactyly or Syndactyly 4. Polyuria and/or polydipsia (nephrogenic diabetes insipidus) 5. Ataxia, poor coordination, ...
Liebenberg syndrome
Brachydactyly and camptodactyly occur; fingers are short and abnormally bent. These changes in finger shape result in small ... 2000). "Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550)". Journal of Medical Genetics. 37 (7): 548-551. ... of the bony components of the elbow Abnormal shape of carpal bones Brachydactyly, a symptom where the fingers and toes are ...
Fitzsimmons-Guilbert syndrome
"Paraplegia - brachydactyly - cone-shaped epiphysis". ORPHANET. Retrieved 2007-03-17. CS1 maint: discouraged parameter (link) ... Both had skeletal abnormalities of the hands and feet: brachydactyly, cone-shaped epiphyses, and an abnormal metaphyseal- ... Hennekam R (1994). "Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons ... and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?". Am J Med Genet. 84 (2): 90-3. doi: ...
Acrodysostosis
Arkless R, Graham CB (1967). "An unusual case of brachydactyly. Peripheral dysostosis? Pseudo-pseudo-hypoparathyroidism? Cone ...
List of diseases (B)
Brachydactyly long thumb type. *Brachydactyly mesomelia mental retardation heart defects. *Brachydactyly nystagmus cerebellar ...
Biemond syndrome
The family described by Biemond had a few members across four generations who had brachydactyly (due to one short metacarpal ... "OMIM Entry - 113400 - BRACHYDACTYLY-NYSTAGMUS-CEREBELLAR ATAXIA". omim.org. Retrieved 2019-12-23. Beighton, Greta (2012-12-06 ... Biemond syndrome is a genetic disorder characterised by brachydactyly, nystagmus, strabismus, cerebellar ataxia and ...
Heart-hand syndromes
Holt-Oram syndrome, Brachydactyly-long thumb syndrome, Patent ductus arteriosus-bicuspid aortic valve syndrome and Heart-hand ... It causes sudden cardiac death due to ventricular tachycardia, and it prominently causes a unique type of brachydactyly with ... A unique feature in the syndrome is symmetric brachydactyly with long thumbs. It has been confirmed that Patent ductus ... "OMIM Entry - 112430 - LONG-THUMB BRACHYDACTYLY SYNDROME". Retrieved 25 July 2016. "OMIM Entry - 604381 - PATENT DUCTUS ...
Ruzicka Goerz Anton syndrome
Ichthyosis Brachydactyly Clinodactyly "Ruzicka Goerz Anton syndrome". Check Orphan. Retrieved 2011-09-02. "Ruzicka-Goerz-Anton ... Further studies showed several skeletal deformities including brachydactyly, clinodactyly, and extra ribs. One year earlier, ... brachydactyly, clinodactyly, accessory cervical ribs and carcinoma of the thyroid". Dermatologica. 162 (2): 124-36. doi:10.1159 ...
Nicolaides-Baraitser syndrome
"Orphanet: Intellectual disability sparse hair brachydactyly syndrome". www.orpha.net. Retrieved 17 March 2019. Van Houdt, ... brachydactyly, and prominent finger joints and broad distal phalanges. Mild prenatal growth retardation Moderate postnatal ...
Weill-Marchesani syndrome
... brachydactyly); and distinctive eye (ocular) abnormalities. It was named after ophthalmologists Georges Weill (1866-1952) and ...
Banki syndrome
Tiberio G, Digilio MC, Graziani M, Testa F, Giannotti A (2000). "Liebenberg syndrome: brachydactyly with joint dysplasia (MIM ...
X-linked recessive inheritance
... brachydactyly of the distal phalanges, sensorineural deafness Nonsyndromic deafness; hearing loss Norrie disease; cataracts, ...
Indian hedgehog (protein)
2002). "A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved". Hum. Genet. 111 (4-5): ... 2003). "Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third ... 2001). "Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1". Nat. Genet. 28 (4): 386-8. doi:10.1038/ng577 ...
HOXD9
"Mutations in HOXD13 Underlie Syndactyly Type V and a Novel Brachydactyly-Syndactyly Syndrome". Am. J. Hum. Genet. 80 (2): 361- ...
2q37 deletion syndrome
2006). "Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region". European Journal ... brachydactyly and behavioural features in 14 new patients". European Journal of Human Genetics. 21 (6): 602-12. doi:10.1038/ ... and feet such as brachydactyly. Autism-like symptoms consist of odd obsessions, repetitive behavior, poor use of eye contact, ...
Nasodigitoacoustic syndrome
The broadness and brachydactyly of the big toes in particular may give them a stunted, rounded and stub-like appearance. The ... On X-rays of a two-year-old boy with the disorder, the brachydactyly was shown to be caused by shortening of epiphyses (joint- ... Brachydactyly of the distal phalanges, sensorineural deafness and pulmonary stenosis are common with Keutel syndrome. In Muenke ... The syndrome is characterized by a misshaped nose, broad thumbs and halluces (the big toes), brachydactyly, sensorineural ...
Fibroblast growth factor receptor 1
This mutation results in craniosynostosis, mandibular prognathism, hypertelorism, brachydactyly, and inter-phalangeal joint ...
William Curtis Farabee
... entitled Brachydactyly. Brachydactyly is a dominant genetic trait that is characterized by shortened fingers and shortened ... By doing so he showed that the ratio of those with and without brachydactyly followed a pattern explained by Mendel's pattern ... Gao, B., and L. He (2004) "Answering A Century Old Riddle: Brachydactyly Type A1." Cell Research 14: 179-187. Spencer, F. (1981 ...
Cooks syndrome
However, in 2007, a 2-year-old girl was found with symptoms consistent with both brachydactyly type B and Cooks syndrome. It ... de Ravel, T. J.; Berkowitz, D.E.; Wagner, J.M.; Jenkins, T. (January 1999). "Brachydactyly type B with its distinct facies and ... In 1999, a pair of siblings was found with brachydactyly type B. Because the disorder primarily affected the nails and distal ... brachydactyly type B". American Journal of Medical Genetics. 143 (2): 195-9. doi:10.1002/ajmg.a.31433. PMID 17163524. S2CID ...
ROR2
It is involved in Robinow syndrome and autosomal dominant brachydactyly type B. ROR2 is a member of the receptor tyrosine ... 2008). "The deleted in brachydactyly B domain of ROR2 is required for receptor activation by recruitment of Src". PLOS ONE. 3 ( ... GeneReviews/NCBI/NIH/UW entry on ROR2-Related Robinow Syndrome GeneCard for ROR2 ROR2 Mutations Cause Brachydactyly Type B and ... 2009). "A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese ...
Ectrodactyly
Of these 54 adults, 46 (85%) had missing (ectrodactyly), extra (polyphalangy) or dwarfed digits (brachydactyly). Among the 1259 ... larvae, 102 were malformed, with 94 (92%) of the malformations involving ectrodactyly, polyphalangy, and brachydactyly. Results ...
Multiple epiphyseal dysplasia
Knees have metaphyseal widening and irregularity while hands have brachydactyly (short fingers) and proximal metacarpal ... inward curving fingers due to underdeveloped bones and brachydactyly, or ear swelling caused by injury during birth). Height is ...
Bruno Reversade
2010-12-10). "Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling ...
Warfarin
Limb abnormalities, such as brachydactyly (unusually short fingers and toes) or underdeveloped extremities, can also occur. ...
Majewski's polydactyly syndrome
Associated anomalies include protruding abdomen, brachydactyly, peculiar faces, hypoplastic epiglottis, cardiovascular defects ...
Robinow syndrome
This same gene is involved in causing autosomal dominant brachydactyly B. The autosomal dominant form has been linked to three ... ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B". Hum. Mutat. 22 (1): 1-11. ...
Spondyloperipheral dysplasia
... brachydactyly). Some affected individuals also have other skeletal abnormalities, short stature, nearsightedness (myopia), ...
Brachydactyly - Wikipedia
Brachydactyly type A1 at NIHs Office of Rare Diseases Brachydactyly type A2 at NIHs Office of Rare Diseases Brachydactyly ... There are several types of Brachydactyly: In the above brachydactyly syndromes, short digits are the most prominent of the ... Brachydactyly type B at NIHs Office of Rare Diseases Brachydactyly type C at NIHs Office of Rare Diseases Brachydactyly type ... Brachydactyly can also be a signal that one will be at risk for heart problems as they age. Nomograms for normal values of ...
Brachydactyly type D - Wikipedia
It is a type of brachydactyly, or shortness of digits, and is associated with the HOXD13 gene. Brachydactyly type D is a ... Brachydactyly type D, also known as short thumb or stub thumb and inaccurately referred to as clubbed thumb. is a condition ... "OMIM Entry - # 113200 - BRACHYDACTYLY, TYPE D; BDD". omim.org. Retrieved 2019-08-17. GOODMAN RM; ADAM A; SHEBA C (1965). "A ... Williams, Kimberly D. (2013-09-10). "Non-Syndromic Brachydactyly Type D and Type E Mapped to 7p15 in Healthy Children and ...
Temtamy preaxial brachydactyly syndrome - NORD (National Organization for Rare Disorders)
Preaxial brachydactyly syndrome, Temtamy type. *Mental retardation syndrome with preaxial brachydactyly, hyperphalangism, ... Home / For Patients and Families / Rare Disease Information / NIH GARD Report: Temtamy preaxial brachydactyly syndrome ... NIH GARD Information: Temtamy preaxial brachydactyly syndrome. This information is provided by the National Institutes of ...
Childhood Hypertension in Autosomal-Dominant Hypertension With Brachydactyly | Hypertension
Childhood Hypertension in Autosomal-Dominant Hypertension With Brachydactyly. Okan Toka, Philipp G. Maass, Atakan Aydin, Hakan ... Childhood Hypertension in Autosomal-Dominant Hypertension With Brachydactyly. Okan Toka, Philipp G. Maass, Atakan Aydin, Hakan ... Childhood Hypertension in Autosomal-Dominant Hypertension With Brachydactyly. Okan Toka, Philipp G. Maass, Atakan Aydin, Hakan ...
Clinical Effects of Phosphodiesterase 3A Mutations in Inherited Hypertension With Brachydactyly | Hypertension
Clinical Effects of Phosphodiesterase 3A Mutations in Inherited Hypertension With Brachydactyly. Okan Toka, Jens Tank, Carolin ... Clinical Effects of Phosphodiesterase 3A Mutations in Inherited Hypertension With Brachydactyly. Okan Toka, Jens Tank, Carolin ... Clinical Effects of Phosphodiesterase 3A Mutations in Inherited Hypertension With Brachydactyly. Okan Toka, Jens Tank, Carolin ... Autosomal-dominant hypertension with brachydactyly is a salt-independent Mendelian syndrome caused by activating mutations in ...
Brachydactyly type A4 | definition of Brachydactyly type A4 by Medical dictionary
What is Brachydactyly type A4? Meaning of Brachydactyly type A4 medical term. What does Brachydactyly type A4 mean? ... Looking for online definition of Brachydactyly type A4 in the Medical Dictionary? Brachydactyly type A4 explanation free. ... Brachydactyly type a1, Brachydactyly type A2, Brachydactyly type E, Brachydactyly type A3, Brachydactyly type D, Brachydactyly ... brachydactyly. (redirected from Brachydactyly type A4). Also found in: Dictionary, Thesaurus.. Related to Brachydactyly type A4 ...
Brachydactyly type D | definition of Brachydactyly type D by Medical dictionary
What is Brachydactyly type D? Meaning of Brachydactyly type D medical term. What does Brachydactyly type D mean? ... Looking for online definition of Brachydactyly type D in the Medical Dictionary? Brachydactyly type D explanation free. ... brachydactyly. (redirected from Brachydactyly type D). Also found in: Dictionary, Thesaurus. brachydactyly. [brak″e-dak´tĭ-le] ... brachydactyly. /brachy·dac·ty·ly/ (-dak´tĭ-le) abnormal shortness of fingers and toes.. brachydactyly. [-dak′təlē] ...
JCI -
Activating and deactivating mutations
in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type...
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. Am. J. Med. Genet. 2004. 124A:356-363 ... Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proc. Natl. Acad. Sci. U. S. A. 2003. 100: ... Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat. Genet. 1997. 17:18-19. View this article via: PubMed ... The brachydactyly mutation (L441P) results in a loss of function through a reduced binding affinity to the BMPR1B receptor, ...
Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech | Genetic and Rare Diseases Information Center ...
... and questions answered by our Genetic and Rare Diseases Information Specialists for Spondyloepiphyseal dysplasia-brachydactyly ... Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech Title Other Names:. SED-BDS; Fantasy Island syndrome; Tattoo ... a searchable database of medical literature and lists journal articles that discuss Spondyloepiphyseal dysplasia-brachydactyly ...
Brachydactyly long thumb type | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
... disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Brachydactyly ... Brachydactyly. - long thumb syndrome. is a very rare autosomal dominant. heart-hand syndrome (see this term) that is ... PubMed is a searchable database of medical literature and lists journal articles that discuss Brachydactyly long thumb type. ... characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder ...
Brachydactyly a possible inherited anomaly at prehistoric Prince Rupert Harbour.
Brachydactyly a possible inherited anomaly at prehistoric Prince Rupert Harbour.. код для вставки. код для вставки на сайт или ... Brachydactyly refers to short fingers or toes owing to anomalous development of one or more of the metacarpals, metatarsals, ... BRACHYDACTYLY IN CANADIAN SKELETONS 365 Fig. 1. a: Short fourth and right fifkh metacarpals in burial 516. b: Short fourth ... Brachydactyly was principally identified by one, two, or three short metacarpals or metatarsals in eight burial skeletons and ...
Brachydactyly with hypertension Symptoms, Diagnosis, Treatments and Causes - RightDiagnosis.com
Brachydactyly with hypertension information including symptoms, diagnosis, misdiagnosis, treatment, causes, patient stories, ... Contents for Brachydactyly with hypertension: *Brachydactyly with hypertension *What is Brachydactyly with hypertension? * ... Videos related to Brachydactyly with hypertension *Types of Brachydactyly with hypertension *Causes of Brachydactyly with ... Diagnostic Tests for Brachydactyly with hypertension *Home Testing and Brachydactyly with hypertension *Signs of Brachydactyly ...
Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly |...
Hypertension and Brachydactyly Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Brachydactyly, Type E, with Short Stature and Hypertension 53 71 Brachydactyly Type E with Short Stature and Hypertension 49 71 ... MalaCards integrated aliases for Hypertension and Brachydactyly Syndrome:. Name: Hypertension and Brachydactyly Syndrome 53 71 ... MalaCards based summary : Hypertension and Brachydactyly Syndrome, also known as brachydactyly with hypertension, is related to ... UniProtKB/Swiss-Prot : 71 Hypertension and brachydactyly syndrome: A syndrome characterized by brachydactyly type E, severe ...
Thumb stiff brachydactyly mental retardation
... Common Name(s). Thumb stiff brachydactyly mental retardation ... Please click this link to visit the PubMed website for results on "Thumb stiff brachydactyly mental retardation". ... Please click this link to visit the PubMed website for results on "Thumb stiff brachydactyly mental retardation". ... Finding the right clinical trial for Thumb stiff brachydactyly mental retardation can be challenging. However, with ...
Cureus | Brachydactyly Mental Retardation Syndrome Diagnosed in Adulthood
However, because patients experience a range of symptoms such as autism, seizures, heart defects, brachydactyly, there could be ... Brachydactyly mental retardation syndrome (BDMR) is due to a rare, small chromosomal deletion of 2q37, and manifests with ... Brachydactyly Mental Retardation Syndrome Diagnosed in Adulthood Rupak Mahendhar , Paria Zarghamravanbakhsh, Maia Natalia. ... Brachydactyly mental retardation syndrome (BDMR) is due to a rare, small chromosomal deletion of 2q37, and manifests with ...
Brachydactyly Type E
There is phenotypic overlap between Brachydactyly Type D (BDD) and Brachydactyly Type E (BDE) that suggests a possible common ... Brachydactyly type E (BDE) is autosomal dominant, meaning that it is passed from parents to their children and that if one of ... Brachydactyly type E (BDE) is a rare set of birth defects, or a syndrome. This syndrome is characterized by shortened ... Nonsyndromic brachydactyly type D and type E mapped to 7p15 in healthy children and adults from the Jirel ethnic group in ...
Brachydactyly, Type D disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
Diseases in the Brachydactyly family:. Brachydactyly, Type A1 Brachydactyly, Type A2 Brachydactyly, Type A3 Brachydactyly, Type ... UniProtKB/Swiss-Prot : 76 Brachydactyly D: A form of brachydactyly. Brachydactyly defines a group of inherited malformations ... MalaCards integrated aliases for Brachydactyly, Type D:. Name: Brachydactyly, Type D 58 13 56 41 74 ... Brachydactyly Type A7 Diseases related to Brachydactyly, Type D via text searches within MalaCards or GeneCards Suite gene ...
Brachydactyly synonyms, brachydactyly antonyms - FreeThesaurus.com
Antonyms for brachydactyly. 1 synonym for brachydactyly: brachydactylia. What are synonyms for brachydactyly? ... Brachydactyly type A2 associated with a defect in proGDF5 processing.. Study of brachydactyly in gipsy population: description ... Brachydactyly synonyms, brachydactyly antonyms - FreeThesaurus.com https://www.freethesaurus.com/brachydactyly. Printer ... brachydactyly. Also found in: Dictionary, Medical, Acronyms, Encyclopedia, Wikipedia. #vtZoom,.vt-link{cursor:pointer} .vt- ...
Brachydactyly and Hernia, related diseases and genetic alterations | MENDELIAN.CO
BRACHYDACTYLY and HERNIA related symptoms, diseases, and genetic alterations. Get the complete information with our medical ... Brachydactyly, and Hernia. Diseases related with Brachydactyly and Hernia. In the following list you will find some of the most ... Patients with Brachydactyly and Hernia. may also develop some of the following symptoms: Uncommon Symptoms - Between 30% and 50 ... Brachydactyly and Hernia, related diseases and genetic alterations ...
Brachydactyly and Hypospadias, related diseases and genetic alterations | MENDELIAN.CO
Stub Thumb - definition of Stub Thumb by The Free Dictionary
Digital arthropathy-brachydactyly, familial | Connective Tissue Gene Tests
Brachydactyly with delayed carpal ossification and flared proximal and distal femoral metaphyses may also be seen. Mutations in ... Familial digital arthropathy-brachydactyly is an aggressive, autosomal dominant osteoarthropathy with clinical findings ... Additionally, patients typically have scoliosis, kyphosis, mild brachydactyly and mildly shortened limbs with proximal femoral ... Additional findings include platyspondyly, brachydactyly, genu valgum, cubitus valgus, broad pelvis, enlarged joints and ...
Short Fingers- Brachydactyly | Congenital Hand and Arm Differences
First, brachydactyly can be isolated or can be part of a larger syndrome. This means that for most people, the short fingers ... Brachydactyly is typically a condition that affects the appearance of the hand more than the functional ability of the hand. ... Brachydactyly, or short fingers, is a different condition as there are the normal 5 digits with shortening of either the ... I believe my daughter and I were both born with brachydactyly type B. We were both born short fingers, that stop at the first ...
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. - Radcliffe Department of...
Both are associated with distinctive limb phenotypes in which brachydactyly of specific metacarpals, metatarsals, and ... phalangeal bones is the most constant feature, exhibiting overlap with brachydactyly types D and E. We investigated the binding ... Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. ... Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. ...
Exostoses - Anetodermia - Brachydactyly Type E Syndrome: Symptoms, Diagnosis and Treatment - Symptoma
Brachydactyly Type E Syndrome: Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis. ... Severe Brachydactyly Note severe brachydactyly of metatarsal 4 and less severe brachymetatarsy 5. Are exostoses present? Fig. 4 ... Brachydactyly is typically an inherited condition. If you have a family member with brachydactyly, your risk for also having it ... Brachydactyly. Marked shortness of the left fourth metatarsal (Fig. 3 ). (Ac- cording to the relatives, the brachydactyly of 11 ...
Brachydactyly-of-the-foot & Depressed-nasal-tip & Dysmorphic-ears: Causes & Reasons - Symptoma
Brachydactyly-of-the-foot & Depressed-nasal-tip & Dysmorphic-ears Symptom Checker: Possible causes include Wiedemann-Steiner ... unspecified lower limb Approximate Synonyms Brachydactyly of bilat toes Brachydactyly of bilateral toes Brachydactyly of left ... syndrome, Hand-foot-uterus syndrome HOXD13 Brachydactyly type D, Brachydactyly-syndactyly syndrome, Syndactyly, Synopolydactyly ... syndrome, Hand-foot-uterus syndrome HOXD13 Brachydactyly type D, Brachydactyly-syndactyly syndrome, Syndactyly, Synopolydactyly ...
Deletion and point mutations of PTHLH cause brachydactyly type E. :: MPG.PuRe
Deletion and point mutations of PTHLH cause brachydactyly type E. ... Deletion and point mutations of PTHLH cause brachydactyly type ... 2010). Deletion and point mutations of PTHLH cause brachydactyly type E. The American Journal of Human Genetics, 86(3), 434-439 ... Abstract: Autosomal-dominant brachydactyly type E (BDE) is a congenital limb malformation characterized by small hands and feet ...
Sugarman brachydactyly | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Sugarman brachydactyly ... Sugarman brachydactyly Title Other Names:. Brachydactyly of the hands and feet with duplication of the first toes; ... PubMed is a searchable database of medical literature and lists journal articles that discuss Sugarman brachydactyly. Click on ...
Preaxial brachydactyly syndromeToesHypertension and Brachydactyly SyndromeCongenitalGeneMetacarpalsAnomaliesType of brachydactylyOMIMMental retardation syndromeGeneticHOXD13Cause brachydactylyThumbMissense mutation in the prodomainMutationsFamilialGDF5ProximalBoneMalaCardsSymptomsDiseasesSevereDominant traitClinicalSkeletalDeformityDisordersGenesMildOverlap
Preaxial brachydactyly syndrome3
- Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. (genecards.org)
- Diseases associated with CHSY1 include Temtamy Preaxial Brachydactyly Syndrome and Brachydactyly . (genecards.org)
- Temtamy preaxial brachydactyly syndrome (TPBS): A syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, and bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism. (nih.gov)
Toes6
- Brachydactyly refers to short fingers or toes owing to anomalous development of one or more of the metacarpals, metatarsals, and phalanges. (docme.ru)
- A very rare disease characterized by the association of hypertension with brachydactyly (abnormally short fingers and/or toes). (rightdiagnosis.com)
- Brachydactyly type D is characterized by short and broad terminal phalanges of the thumbs and big toes. (malacards.org)
- 12 A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has material basis in mutation in the HOXD13 gene on chromosome 2q31.1. (malacards.org)
- Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. (orthopaedicweblinks.com)
- Autosomal dominantly inherited or de novo variants in NOG lead to a spectrum of joint/digit abnormality disorders with or without conductive hearing loss, including Type B2 brachydactyly (BDB2), multiple synostoses syndrome 1 (SYN1), stapes ankylosis with broad thumbs and toes (Teunissen-Cremers syndrome), proximal symphalangism 1A (SYM1A), and tarsal-carpal coalition syndrome (TCC). (hindawi.com)
Hypertension and Brachydactyly Syndrome5
- 71 Hypertension and brachydactyly syndrome: A syndrome characterized by brachydactyly type E, severe salt- independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, and altered baroreflex blood pressure regulation. (malacards.org)
- Hypertension and Brachydactyly Syndrome, also known as brachydactyly with hypertension , is related to brachydactyly and familial hypertension , and has symptoms including hypertension , short stature and brachydactyly . (malacards.org)
- An important gene associated with Hypertension and Brachydactyly Syndrome is PDE3A (Phosphodiesterase 3A). (malacards.org)
- 53 The hypertension and brachydactyly syndrome is characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and death from stroke before age 50 years when untreated (summary by Maass et al. (malacards.org)
- 72 Hypertension and brachydactyly syndrome (HTNB) also known as Bilginturan syndrome and brachydactyly type. (malacards.org)
Congenital1
- Autosomal-dominant brachydactyly type E (BDE) is a congenital limb malformation characterized by small hands and feet predominantly as a result of shortened metacarpals and metatarsals. (mpg.de)
Gene3
- It is a type of brachydactyly, or shortness of digits, and is associated with the HOXD13 gene. (wikipedia.org)
- An important gene associated with Brachydactyly, Type D is HOXD13 (Homeobox D13), and among its related pathways/superpathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Formation of Fibrin Clot (Clotting Cascade) . (malacards.org)
- For the majority of isolated brachydactylies and some syndromic forms of brachydactyly , the causative gene defect has been identified. (symptoma.com)
Metacarpals10
- Brachydactyly was principally identified by one, two, or three short metacarpals or metatarsals in eight burial skeletons and by three unusually short me- 0 1988 ALAN R. LISS, INC. tapodials recovered as disturbed bones. (docme.ru)
- Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. (malacards.org)
- Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. (malacards.org)
- The characteristic physical features of short stature, round face, brachydactyly of the fourth and fifth metacarpals and the biochemical findings of normal serum calcium, phosphorus and parathyroid hormone concentrations along with a very low level of gonadotropin hormones led us to the diagnosis of Albright's syndrome in this patient who presented to us with primary amenorrhea and hypogonadism. (freethesaurus.com)
- Brachydactyly , or short fingers, is a different condition as there are the normal 5 digits with shortening of either the phalanges or metacarpals or both. (wustl.edu)
- Brachydactyly with different length metacarpals. (wustl.edu)
- Both are associated with distinctive limb phenotypes in which brachydactyly of specific metacarpals, metatarsals, and phalangeal bones is the most constant feature, exhibiting overlap with brachydactyly types D and E. We investigated the binding of synthetic mutant proteins to double-stranded DNA targets in vitro. (ox.ac.uk)
- The hands may display brachydactyly with short fifth metacarpals and short middle phalanges of the second and fifth fingers. (ctgt.net)
- Terminal deletions in the long arm of chromosome 2 (2q37.3) are among the most common microdeletion syndromes diagnosed, and have been associated with epilepsy, autistic-like features, short stature, obesity, and brachydactyly type E (short 4th and 5th metacarpals and metatarsals). (northwestern.edu)
- Abnormally short digits involving the metacarpals, classified as brachydactyly type E, can be isolated or occur as part of a syndrome. (bireme.br)
Anomalies3
- There are several types of Brachydactyly: In the above brachydactyly syndromes, short digits are the most prominent of the anomalies, but in many other syndromes (Down syndrome, Rubinstein-Taybi syndrome, etc.), brachydactyly is a minor feature compared to the other anomalies or problems comprising the syndrome. (wikipedia.org)
- Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome (see this term) that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. (nih.gov)
- Weill-Marchesani syndrome is also a connective tissue disorder characterized by short stature, brachydactyly , joint stiffness, and eye anomalies including ectopia lentis, which is also one of the clinical symptoms of MFS. (freethesaurus.com)
Type of brachydactyly2
- The type of brachydactyly obviously matters as some types will cause finger deviation, some an isolated shortness of the digits and some a combination. (wustl.edu)
- What type of brachydactyly affects thumbs and fingers? (healthtap.com)
OMIM1
- Pseudoachondroplasia (OMIM 177170) is an autosomal dominant skeletal dysplasia that results in disproportionately (micromelic) short stature, severe brachydactyly with strikingly lax small joints, various malalignments of the lower limbs owing to laxity of the large joints, and characteristic radiological features. (freethesaurus.com)
Mental retardation syndrome2
- Brachydactyly mental retardation syndrome (BDMR) is due to a rare, small chromosomal deletion of 2q37, and manifests with variable signs and symptoms in people who live with it. (cureus.com)
- Brachydactyly mental retardation syndrome (BDMR) is a rare disease with roughly 100 cases reported worldwide. (cureus.com)
Genetic4
- A genetic trait, brachydactyly type D exhibits autosomal dominance and is commonly developed or inherited independently of other hereditary traits. (wikipedia.org)
- pyknodysotosis, proximal symphalangism, brachydactyly types B C and E, Ellis van Creveld and related disorders, metatrophic chondrodysplasias, cartilage-hair hypoplasia and disorders with a skeletal abnormality that have not yet been defined but might be the result of a genetic defect. (clinicaltrials.gov)
- Turner syndrome, Albright hereditary osteodystrophy, hypertension with brachydactyly, chromosome 2q37 microdeletion and mutations were excluded following clinical, biochemical and genetic testing. (bireme.br)
- Genetic testing for isolated and syndromic forms of brachydactyly facilitates family screening and prepregnancy counselling. (bireme.br)
HOXD132
- Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report. (diseaseinfosearch.org)
- Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. (ox.ac.uk)
Cause brachydactyly3
- Disease-causing variants and haploinsufficiency of PTHLH are known to cause brachydactyly type E and short stature. (diseaseinfosearch.org)
- Deletion and point mutations of PTHLH cause brachydactyly type E. (mpg.de)
- 2010). Deletion and point mutations of PTHLH cause brachydactyly type E. The American Journal of Human Genetics, 86 (3), 434-439. (mpg.de)
Thumb8
- Brachydactyly type D, also known as short thumb or stub thumb and inaccurately referred to as clubbed thumb. (wikipedia.org)
- Brachydactyly type D is a skeletal condition allegedly caused by a 'partial fusion or premature closing of the epiphysis with the distal phalanx of the thumb', according to Goodman et alia (1965). (wikipedia.org)
- Following organizations serve the condition "Thumb stiff brachydactyly mental retardation" for support, advocacy or research. (diseaseinfosearch.org)
- Finding the right clinical trial for Thumb stiff brachydactyly mental retardation can be challenging. (diseaseinfosearch.org)
- The terms "Thumb stiff brachydactyly mental retardation" returned 0 free, full-text research articles on human participants. (diseaseinfosearch.org)
- According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Thumb stiff brachydactyly mental retardation" (open studies are recruiting volunteers) and 0 "Thumb stiff brachydactyly mental retardation" studies with "all" status. (diseaseinfosearch.org)
- The sultry star has a condition called brachydactyly type-D, where bone in the end of the thumb is short and round, with an accompanying short and wide nail bed. (thesun.co.uk)
- Brachydactyly Thumb? (uaddit.com)
Missense mutation in the prodomain2
- Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family. (freethesaurus.com)
- 2004). Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. (mpg.de)
Mutations3
- This problem has particular importance because mutations in ROR2 are associated with two human skeletal dysmorphology syndromes, recessive Robinow Syndrome (RS) and dominant acting Brachydactyly type B (BDB). (bham.ac.uk)
- Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? (mpg.de)
- PDE3A mutations cause autosomal dominant hypertension with brachydactyly. (mpg.de)
Familial1
- Familial digital arthropathy-brachydactyly is an aggressive, autosomal dominant osteoarthropathy with clinical findings confined to the hands and feet. (ctgt.net)
GDF51
- Two Pakistani families with sequence variants in GDF5 and TRPS1 causing brachydactyly type C and tricho-rhino-phalangeal syndrome type III are described. (antibodies-online.com)
Proximal2
Bone1
- Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. (diseaseinfosearch.org)
MalaCards1
- MalaCards based summary : Exostoses with Anetodermia and Brachydactyly , Type E, is also known as exostoses-anetodermia- brachydactyly type e syndrome. (symptoma.com)
Symptoms2
- More detailed information about the symptoms , causes , and treatments of Brachydactyly with hypertension is available below. (rightdiagnosis.com)
- However, because patients experience a range of symptoms such as autism, seizures, heart defects, brachydactyly, there could be unforeseen complications with BDMR. (cureus.com)
Diseases2
- Brachydactyly with hypertension is listed as a " rare disease " by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). (rightdiagnosis.com)
- In the following list you will find some of the most common rare diseases related to Brachydactyly and Hernia that can help you solving undiagnosed cases. (mendelian.co)
Severe2
- Note severe brachydactyly of metatarsal 4 and less severe brachymetatarsy 5. (symptoma.com)
- The radiological hallmarks were reported to be platyspondyly with rectangular vertebral bodies, widened metaphyses and small, irregular epiphyses of the long bones, severe brachydactyly with extra-carpal bones, and clefts of the cervical spine. (lww.com)
Dominant trait2
- Brachydactyly is an inherited, usually dominant trait. (wikipedia.org)
- The statement to which he took exception concerned the dominant trait, brachydactyly. (genetics.org)
Clinical1
- Finding the right clinical trial for Brachydactyly Type E can be challenging. (diseaseinfosearch.org)
Skeletal1
- This paper details the occurrence of brachydactyly and its somewhat more variable nature of expression in a 1500 B. C. to A. D. 500 skeletal series from eight shell-midden sites on the north mainland coast of British Columbia, Canada. (docme.ru)
Deformity1
- Eventually all interphalangeal, metacarpophalangeal and metatarsophalangeal joints are affected by the progressive arthropathy resulting in brachydactyly and deformity of the middle and distal phalanges. (ctgt.net)
Disorders1
- Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic. (bireme.br)
Genes1
- And last, many of the genes associated with brachydactyly have been identified. (wustl.edu)
Mild1
- Generalized brachydactyly is mild to moderate. (nemours.org)
Overlap1
- There is phenotypic overlap between Brachydactyly Type D (BDD) and Brachydactyly Type E (BDE) that suggests a possible common underlying etiology. (diseaseinfosearch.org)