MCID: BRC081
MIFTS: 38
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Brachydactyly, Type C
Categories:
Genetic diseases, Rare diseases, Bone diseases, Fetal diseases
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MalaCards integrated aliases for Brachydactyly, Type C:
Characteristics:Orphanet epidemiological data:55
brachydactyly type c
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; OMIM:53
Inheritance:
autosomal dominant
Miscellaneous:
allelic to grebe syndrome , du pan syndrome , and acromesomelic dysplasia, hunter thompson type HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases
ICD10:
32
33
External Ids:
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NIH Rare Diseases
:
49
Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal. Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar deviation (angled towards the fifth finger) of the index finger; and unusually-shaped bones and/or epiphysis (end of a long bone). Brachydactyly type C is typically caused by changes (mutations) in the GDF5 gene and is inherited in an autosomal dominant manner. Treatment varies based on the severity of the condition. Physical therapy and/or plastic surgery may be indicated if the condition affects hand function.
Last updated: 11/4/2015
MalaCards based summary : Brachydactyly, Type C, also known as brachydactyly type c, is related to brachydactyly and brachydactyly, type a2, and has symptoms including short stature, cone-shaped epiphysis and abnormality of the fingernails. An important gene associated with Brachydactyly, Type C is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways are TGF-beta signaling pathway and Hippo signaling pathway. Affiliated tissues include bone. Disease Ontology : 12 A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has material basis in heterozygous mutation in the GDF5 gene on chromosome 20q11. UniProtKB/Swiss-Prot : 71 Brachydactyly C: A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type C is characterized by deformity of the middle and proximal phalanges of the second and third fingers, sometimes with hypersegmentation of the proximal phalanx. The ring finger may be essentially normal and project beyond the others. Wikipedia : 72 Brachydactyly (Greek βραχύς = \"short\" plus δάκτυλος = \"finger\"), is a medical term which literally... more...
Description from OMIM:
113100
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Symptoms via clinical synopsis from OMIM:53Clinical features from OMIM:113100Human phenotypes related to Brachydactyly, Type C:55 31 (show all 41)
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Interventional clinical trials:![]()
Cochrane evidence based reviews: brachydactyly type c |
MalaCards organs/tissues related to Brachydactyly, Type C:38
Bone
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Articles related to Brachydactyly, Type C:(show all 20)
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UniProtKB/Swiss-Prot genetic disease variations for Brachydactyly, Type C:71
ClinVar genetic disease variations for Brachydactyly, Type C:6
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Search
GEO
for disease gene expression data for Brachydactyly, Type C.
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Pathways related to Brachydactyly, Type C according to KEGG:36![]()
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Biological processes related to Brachydactyly, Type C according to GeneCards Suite gene sharing:
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