Arachnodactyly
Contracture
Marfan Syndrome
An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.
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A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved.
Connective Tissue Diseases
Microfilament Proteins
Congenital contractural arachnodactyly (Beals syndrome). (1/4)
Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosome 5q23. Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially elbow, knee and finger joints), and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in Marfan syndrome. The incidence of CCA is unknown and its prevalence is difficult to estimate considering the overlap in phenotype with MFS; the number of patients reported has increased following the identification of FBN2 mutation. Molecular prenatal diagnosis is possible. Ultrasound imaging may be used to demonstrate joint contractures and hypokinesia in suspected cases. Management of children with CCA is symptomatic. Spontaneous improvement in camptodactyly and contractures is observed but residual camptodactyly always remains. Early intervention for scoliosis can prevent morbidity later in life. Cardiac evaluation and ophthalmologic evaluations are recommended. (+info)Severe acute respiratory failure secondary to acute fibrinous and organizing pneumonia requiring mechanical ventilation: a case report and literature review. (2/4)
(+info)Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. (3/4)
(+info)In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. (4/4)
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Arachnodactyly
... ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and ... It is also seen in congenital contractural arachnodactyly, which is caused by mutation in the gene encoding fibrillin-2 on ... It remains unconfirmed whether composer Sergei Rachmaninoff's abnormally large reach on a piano was a result of arachnodactyly ... Wikimedia Commons has media related to Arachnodactyly. v t e (CS1 errors: missing periodical, Articles with short description, ...
Congenital contractural arachnodactyly
... (CCA), also known as Beals-Hecht syndrome, is a rare autosomal dominant congenital ... Congenital contractural arachnodactyly in cattle NIH Genetic and Rare Diseases Information Center (GARD) (2017-01-31). " ... "Congenital contractural arachnodactyly". Genetics Home Reference. 2013. Retrieved 2018-04-18. Tunçbilek E, Alanay Y (2006). " ... "Congenital contractural arachnodactyly". Genetic Testing Registry. Retrieved 2018-04-18. (Articles with short description, ...
Cryptorchidism-arachnodactyly-intellectual disability syndrome
... is a rare multi-systemic genetic disorder of unknown prevalence ... "Cryptorchidism-arachnodactyly-intellectual disability syndrome (Concept Id: C4707233) - MedGen - NCBI". www.ncbi.nlm.nih.gov. ... "Orphanet: Cryptorchidism arachnodactyly intellectual disability syndrome". www.orpha.net. Retrieved 2022-05-30. "Van Benthem- ... arachnodactyly, cryptorchidism, hypospadias, and testicular agenesis. No new cases have been reported since 1970. RESERVED, ...
Congenital contractural arachnodactyly in cattle
Congenital contractural arachnodactyly (CA), also known as fawn calf syndrome, is an autosomal recessive genetic disorder in ... Denholm, Laurence (May 2010). "Congenital contractural arachnodactyly in Angus cattle" (PDF). No. PRIMEFACT 1015. NSW ... cite magazine}}: Cite magazine requires ,magazine= (help) "OMIA 001511-9913 : Contractural arachnodactyly (Fawn calf syndrome) ... "Mapping of congenital contractural arachnodactyly in cattle" (PDF). Association for the Advancement of Animal Breeding and ...
Connective tissue disease
Congenital contractural arachnodactyly - Also known as Beals syndrome. It is akin to Marfan syndrome but with contractures of ... "Congenital contractural arachnodactyly". Genetics Home Reference. Retrieved 2019-11-19. Reference, Genetics Home. "Loeys-Dietz ...
List of OMIM disorder codes
TBX1 Contractural arachnodactyly, congenital; 121050; FBN2 Convulsions, benign familial infantile, 3; 607745; SCN2A1 ...
Achard syndrome
... is a syndrome consisting of arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet ... PARISH JG (1960). "Skeletal syndromes associated with arachnodactyly". Proceedings of the Royal Society of Medicine. 53: 515-8 ...
Dolichostenomelia
Arachnodactyly Schachner, Lawrence A.; Hansen, Ronald C. (2011). Pediatric Dermatology E-Book. Elsevier Health Sciences. p. 401 ...
Toe
Other variants may include syndactyly or arachnodactyly. Forefoot shape, including toe shape, exhibits significant variation ...
Dolichonychia
Arachnodactyly Dolichostenomelia Marfan syndrome Ehlers-Danlos syndromes Cohen, Philip R.; Milewicz, Dianna McGookey (April ... it often appears alongside arachnodactyly and/or dolichostenomelia, which is the condition of having long and slender fingers ...
Munis Dundar
described Turkish family with dominantly-inherited blindness, scoliosis and arachnodactyly. Two brothers with abnormal ... blindness and arachnodactyly in a large Turkish family: is it a new syndrome?". Genetic Counseling (Geneva, Switzerland). 19 (3 ... Scoliosis and Arachnodactyly Syndrome 2008 Multiple Congenital Abnormalities and Mental Retardation 2012 All syndromes are in ... ", "Scoliosis, Blindness and Arachnodactyly Syndrome" and "Multiple Congenital Abnormalities and Mental Retardation Syndrome". ...
Aberdeen Angus
"Congenital contractural arachnodactyly ('fawn calf syndrome') in Angus cattle" (PDF). NSW Department of Trade and Investment ... contractural arachnodactyly (CA), formerly referred to by the name of "fawn calf syndrome", which reduces mobility in the hips ...
Shprintzen-Goldberg syndrome
Shprintzen, RJ; Goldberg, R (1982). "A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and ...
Lujan-Fryns syndrome
... not unlike arachnodactyly) with joint hyperextensibility, shortened halluces (the big toes) and long second toes. The diagnosis ... "Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency". Journal ...
Haim-Munk syndrome
... (also known as "palmoplantar keratoderma with periodontitis and arachnodactyly and acro-osteolysis") is a ... Haim, S.; Munk, J. (January 1965). "Keratosis palmo-plantaris congenita, with periodontosis, arachnodactyly and a peculiar ... arachnodactyly), and osteolysis involving the distal phalanges of fingers and toes (acro-osteolysis). Permanent flexion ...
Bhaskar-Jagannathan syndrome
Similar or related medical conditions are arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed ...
Hypermobility (joints)
... arachnodactyly; positive Steinberg finger / Walker wrist signs). Abnormal skin: striae, hyperextensibility, thin skin, ...
Camptodactyly, tall stature, and hearing loss syndrome
... and arachnodactyly". Human Mutation. 35 (8): 959-963. doi:10.1002/humu.22597. ISSN 1098-1004. PMID 24864036. S2CID 22570252. " ...
Camptodactyly
March 2009). "Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: ...
Cytochrome P450 reductase
... arachnodactyly and disordered steroidogenesis. However, the clinical and biochemical characteristics of patients with POR ...
Marden-Walker syndrome
The first case of this was in 1966 a female infant was diagnosed with blepharophimosis, joint contractures, arachnodactyly and ... It is characterized by blepharophimosis, microcephaly, micrognathia, multiple joint contractures, arachnodactyly, camptodactyly ... arachnodactyly, chest deformation as pectus, kyphoscoliosis and absent deep tendon reflexes are frequent minor malformations ...
Antley-Bixler syndrome
Other symptoms, such as cardiac malformations, proptotic exophthalmos (bulging eyes), arachnodactyly (spider-like fingers) as ...
Ehlers-Danlos syndromes
... arachnodactyly), unusually long limbs, and a sunken chest (pectus excavatum) or protruding chest (pectus carinatum). It can be ...
Antoine Marfan
... was affected by a condition known as congenital contractural arachnodactyly, and not Marfan's syndrome. Further eponymous ...
List of diseases (C)
Continuous muscle fiber activity hereditary Continuous spike-wave during slow sleep syndrome Contractural arachnodactyly ... shunt Congenital central hypoventilation syndrome Congenital constricting band Congenital contractural arachnodactyly ... Cryptomicrotia brachydactyly syndrome Cryptophthalmos-syndactyly syndrome Cryptosporidiosis Cryptorchidism arachnodactyly ...
List of skin conditions
... palmoplantar keratoderma with periodontitis and arachnodactyly and acro-osteolysis) Hidrotic ectodermal dysplasia (alopecia ...
List of diseases (M)
Mental retardation m Mental retardation anophthalmia craniosynostosis Mental retardation arachnodactyly hypotonia ... cataracts calcified pinnae myopathy Mental retardation coloboma slimness Mental retardation contractural arachnodactyly Mental ...
COX4I1
... and arachnodactyly. The homozygous mutation K101N and a de novo 16q24.1 interstitial duplication have been found to cause ...
Small supernumerary marker chromosome
... arachnodactyly, and/or, less commonly, kidney, genitourinary and various vascular and cardiac anomalies. The syndrome is caused ...
CCA
... in anatomy Congenital contractural arachnodactyly, an autosomal dominant congenital connective tissue disorder Air China (ICAO ...
Congenital contractural arachnodactyly - About the Disease - Genetic and Rare Diseases Information Center
Find symptoms and other information about Congenital contractural arachnodactyly. ... Congenital contractural arachnodactyly. Other Names: Arachnodactyly, contractural Beals type; Beals syndrome; Beals-Hecht ... Congenital contractural arachnodactyly is a genetic disease, which means that it is caused by one or more genes not working ... Arachnodactyly Arthrogryposis multiplex congenita Camptodactyly of finger Congenital contracture Congenital kyphoscoliosis ...
Arachnodactyly: MedlinePlus Medical Encyclopedia
Arachnodactyly is a condition in which the fingers are long, slender, and curved. They look like the legs of a spider (arachnid ... Arachnodactyly is a condition in which the fingers are long, slender, and curved. They look like the legs of a spider (arachnid ... Some children are born with arachnodactyly. It may become more evident over time. Talk to your health care provider if your ...
Congenital contractural arachnodactyly: MedlinePlus Genetics
Congenital contractural arachnodactyly is a disorder that affects many parts of the body. Explore symptoms, inheritance, ... Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically ... Mutations in the FBN2 gene cause congenital contractural arachnodactyly. The FBN2 gene provides instructions for producing the ... Rarely, people with congenital contractural arachnodactyly have heart defects such as an enlargement of the blood vessel that ...
Congenital Contractural Arachnodactyly - PubMed
Congenital contractural arachnodactyly (Beals syndrome). Tunçbilek E, Alanay Y. Tunçbilek E, et al. Orphanet J Rare Dis. 2006 ... Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2. Kloth K, Neu A, Rau I, Hülsemann ... Mutation analysis and prenatal diagnosis of a family with congenital contractural arachnodactyly. Hu L, Li H, Sun G, Wu K, Luan ... FBN2 mutations identified in congenital contractural arachnodactyly patients with aortic root dilatation. Am J Hum Genet. 1999; ...
Congenital Contractural Arachnodactyly - GeneReviews® - NCBI Bookshelf
Classic CCA is characterized by arachnodactyly; flexion contractures of multiple joints including elbows, knees, hips, ankles, ... mild arachnodactyly, mild contractures without impairment, and minor ear abnormalities. At the most severe end is severe CCA ... arachnodactyly, contractures, congenital scoliosis, and/or hypotonia) and severe cardiovascular and/or gastrointestinal ... Congenital contractural arachnodactyly (CCA) appears to comprise a broad phenotypic spectrum. ...
Natural cure for Arachnodactyly and alternative treatments
Get natural cures for Arachnodactyly that can make a difference in your life or the life of someone you love with alternative ... Arachnodactyly by state. Arachnodactyly in Alabama. Arachnodactyly in Alaska. Arachnodactyly in Arizona. Arachnodactyly in ... Arachnodactyly in North Dakota. Arachnodactyly in Ohio. Arachnodactyly in Oklahoma. Arachnodactyly in Oregon. Arachnodactyly in ... Arachnodactyly in Indiana. Arachnodactyly in Iowa. Arachnodactyly in Kansas. Arachnodactyly in Kentucky. Arachnodactyly in ...
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Journal of Pediatric Genetics - Volume 3, issue 3 - Journals - IOS Press
Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene ... Abstract: Congenital contractural arachnodactyly is a rare autosomal dominant disorder characterized by crumpled ears, ... All seven individuals with the I1048T substitution had mitral insufficiency, arachnodactyly and characteristic facies ... congenital contractures, arachnodactyly and scoliosis. Only few cases have been described to date. Here we report a newborn ...
Marfan Syndrome | Encyclopedia.com
Arachnodactyly- A condition characterized by abnormally long and slender fingers and toes. ... Arachnodactyly -A condition characterized by abnormally long and slender fingers and toes. ... Marfan syndrome is sometimes called arachnodactyly, which means "spider-like fingers" in Greek, since one of the characteristic ... Marfan syndrome is sometimes called arachnodactyly, which means "spider-like fingers" in Greek, since one of the characteristic ...
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... and arachnodactyly (spider-digits). We also learn about the potentially life-threatening complications of this genetic disorder ... And having long fingers is called arachnodactyly, literally spider digits. One casual test for Marfan syndrome is the wrist ... and arachnodactyly (spider-digits). We also learn about the potentially life-threatening complications of this genetic disorder ...
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MeSH Browser
Arachnodactyly has been associated with several gene mutations and syndromes.. Terms. Arachnodactyly Preferred Term Term UI ... Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes.. ... Arachnodactyly Preferred Concept UI. M0013028. Scope Note. An abnormal bone development that is characterized by extra long and ... Arachnodactyly. Tree Number(s). C05.660.585.174. C16.131.621.585.174. Unique ID. D054119. RDF Unique Identifier. http://id.nlm. ...
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Congenital contractural arachnodactyly1
- Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. (inserm.fr)
Fingers and toes2
- A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia ), feeding difficulties in infancy, infantile muscular hypotonia , and developmental delay leading to intellectual disability . (rareginews.com)
- Common examples are, according to MedicineNet.com, the Marfan gene as "pleiotropic, potentially causing such diverse effects as long fingers and toes (arachnodactyly), dislocation of the lens of the eye, and dissecting aneurysm of the aorta," and 3-hydroxy-3-methyl-glutaryl coenzyme A (HMG-CoA) reductase inhibitors. (medscape.com)
Toes1
- Arachnodactyly can include feet and toes. (bvsalud.org)
Developmental1
- We suggest that the combination of arachnodactyly with developmental delay should prompt investigation of this region within the differential diagnosis. (bmj.com)
Marfan's1
- The size of his hands may have been a manifestation of Marfan's syndrome, their size and slenderness typical of arachnodactyly. (web.app)
Slender2
- Arachnodactyly is a condition in which the fingers are long, slender, and curved. (medlineplus.gov)
- arachnodactyly - A condition in which the fingers and hands are abnormally long and slender. (wordpanda.net)
Syndrome2
- He had arachnodactyly (very long fingers) which Schwartz felt was likely due to Marfan syndrome. (curiousclinicians.com)
- People with Marfan syndrome are often tall with long, thin arms and legs and spider-like fingers (called arachnodactyly). (adam.com)
Dysmorphism1
- Male sib aged 8 years showing facial dysmorphism and arachnodactyly. (bmj.com)
Cardiovascular system1
- the disease can be suspected only due to pathologies of the cardiovascular system, high growth, arachnodactyly (those same "spider fingers") and increased elasticity. (myfastweightloss.net)
Long1
- Arachnodactyly: thin and long fingers, like spider's legs. (wordpress.com)
Article1
- No article was found for Arachnodactyly and CAV1[original query] . (cdc.gov)
Hand1
- He has arachnodactyly (palm length 10.5 cm (75th centile), middle finger length 8.0 cm (97th centile), middle finger to total hand ratio 43%) with fifth finger clinodactyly and prominent finger pads. (bmj.com)
Show1
- We feel that this sib pair could help to delineate the common features that may result from duplication of this specific region, in particular to show that arachnodactyly is a key feature. (bmj.com)
Contractural14
- Congenital contractural arachnodactyly is a disorder that affects many parts of the body. (nih.gov)
- Rarely, people with congenital contractural arachnodactyly have heart defects such as an enlargement of the blood vessel that distributes blood from the heart to the rest of the body (aortic root dilatation) or a leak in one of the valves that control blood flow through the heart (mitral valve prolapse). (nih.gov)
- The life expectancy of individuals with congenital contractural arachnodactyly varies depending on the severity of symptoms but is typically not shortened. (nih.gov)
- The prevalence of congenital contractural arachnodactyly is estimated to be less than 1 in 10,000 worldwide. (nih.gov)
- Mutations in the FBN2 gene cause congenital contractural arachnodactyly. (nih.gov)
- The resulting abnormalities of connective tissue underlie the signs and symptoms of congenital contractural arachnodactyly. (nih.gov)
- Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. (nih.gov)
- FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. (nih.gov)
- Congenital contractural arachnodactyly (CCA) appears to comprise a broad phenotypic spectrum. (nih.gov)
- Today, it is thought that Marfan's patient (a five-year-old girl named Gabrielle) was affected by a condition known as congenital contractural arachnodactyly, and not Marfan's syndrome. (astro.com)
- Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder of connective tissue and is characterized by multiple congenital contractures, arachnodactyly, and external ear malformations. (elsevier.com)
- Congenital contractural arachnodactyly - Also known as Beals syndrome. (iiab.me)
- MADISON, N.J. - Nov. 2, 2010 - Pfizer Animal Genetics will donate $2 for every Contractural Arachnodactyly (CA) test run on registered Angus animals from now through the end of the year to the American Angus Foundation. (zoetisus.com)
- Premature or exaggerated symptoms of hyperandrogenism and may make the results is called congenital contractural arachnodactyly. (tetratherapeutics.com)
Contractures2
- At the mildest end, parents who are diagnosed retrospectively upon evaluation of their more severely affected child may show a lean body build, mild arachnodactyly, mild contractures without impairment, and minor ear abnormalities. (nih.gov)
- At the most severe end is "severe CCA with cardiovascular and/or gastrointestinal anomalies," a rare phenotype in infants with pronounced features of CCA (severe crumpling of the ears, arachnodactyly, contractures, congenital scoliosis, and/or hypotonia) and severe cardiovascular and/or gastrointestinal anomalies. (nih.gov)
Aortic1
- unmoved systemsinclude the skeleton (arachnodactyly, secure hypermobility, scoliosis, piece of furniture affliction and senior high school curving palate),the eyes (dislocation of the lens) and the vessel substance (aortic unwellness and atrioventricular valve regurgitation). (warringtonblindsdirect.co.uk)
Pectus1
- They also often have long fingers (a condition healthcare providers call arachnodactyly), an abnormal chest shape (pectus carinatum or pectus excavatum ), and dislocation of the lens of the eye. (verywellhealth.com)
Dolichostenomelia2
Syndrome5
- People with Marfan syndrome are often tall with long, thin arms and legs and spider-like fingers (called arachnodactyly). (nih.gov)
- A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. (orpha.net)
- The two diseases are clinically similar but florid arachnodactyly and scoliosis are commoner in Marfan's syndrome, whereas widening of epiphyses and metaphyses of long bones is a distinctive feature of homocystinuria. (symptoma.com)
- 1. Marfan's syndrome* - although arachnodactyly is not necessary for the diagnosis. (ineedpinpoint.com)
- Other features that can be seen in individuals with Marfan syndrome include long arms and legs, tall and thin body type, long and thin fingers (arachnodactyly), flat feet (pes planus), ankle bones that collapse in (hindfoot deformity) and flexible joint or elbows that can't straighten all the way. (genomemedical.com)
Scoliosis1
- The girl presented at the age of 13 years with macrocytic anaemia, cognitive regression and Marfanoid features such as increased arm-span, arachnodactyly , joint hyperlaxity and scoliosis. (symptoma.com)
Mutations1
- Arachnodactyly has been associated with several gene mutations and syndromes. (nih.gov)
Term1
- The bundled and pejorative term arachnodactyly is replaced by the separate descriptors Long finger and Slender finger. (nih.gov)
Condition2
- Arachnodactyly is a condition in which the fingers are long, slender, and curved. (medlineplus.gov)
- You swallow the guacamole and tell me about a medical condition called arachnodactyly. (eboquills.com)