Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Brachydactyly type A2

Orpha number ORPHA93396
Synonym(s) Brachydactyly, Mohr-Wriedt type
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q73.8
OMIM
UMLS
  • C1832702
MeSH
  • C537089
MedDRA -
SNOMED CT -

Summary

Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger. Only a few cases have been reported in the literature. Characteristically, affected individuals have a triangular shaped middle phalanx of the index fingers and, in severely affected cases, the index finger is curved radially. BDA2 can be caused by mutations in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11. Autosomal dominant inheritance is suggested.


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.