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Brachydactyly type A1

Disease Export to PDF
Name:
Brachydactyly type A1
Description:
A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.
ORPHAcode:
93388
Synonyms:
Brachydactyly, Farabee type
XREF(s):
Orphanet
OMIM
OMIM
OMIM
OMIM
MeSH
ICD-10
Analyte(s):
BMPR1B
GDF5
IHH
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14