Brachydactyly type A1
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 93388
Definition
Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.
Epidemiology
Only a few pedigrees have been reported in the literature.
Clinical description
The proximal phalanges of the thumbs and big toes are short. BDA1 patients tend to be of short stature in adulthood.
Etiology
BDA1 may be caused by mutations in the Indian hedgehog gene ( IHH ) located on chromosome 2q35-36. Another locus for this phenotype has been identified on chromosome 5p13.3-p13.2.
Genetic counseling
BDA1 is inherited as an autosomal dominant trait.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
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