Brachydactyly, Type C (BDC) malady

External Ids:

OMIM 54 113100 Disease Ontology 12 DOID:0110970 ICD10 33 Q73.8 MeSH 42 C537093 D059327 Orphanet 56 ORPHA93384

ICD10 via Orphanet 34 Q73.8 MESH via Orphanet 43 C537093 UMLS via Orphanet 70 C1300268 C1862103 MedGen 40 C1862103 UMLS 69 C1300268 C1862103

NIH Rare Diseases : ⁵⁰ 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 collecting duct carcinoma and bazex syndrome, 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 Hippo signaling pathway and TGF-beta signaling pathway (KEGG). 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 : ⁶⁶ 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.

Description from OMIM: 113100

Symptoms by clinical synopsis from OMIM:

113100

Clinical features from OMIM:

113100

Search NIH Clinical Center for Brachydactyly, Type C

Search GEO for disease gene expression data for Brachydactyly, Type C.