Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Brachydactyly type A1, B

Brachydactyly type A1, B is an autosomal dominant disorder which genetic background remains to be determined. Characteristic is a shortage or even absence of middle phalanges of all digits. Patients exhibit a short stature and some other skeletal abnormalities.


Brachydactyly type A1
Brachydactyly type A1, A
Brachydactyly type A1, B
Brachydactyly type A1, C
Brachydactyly type A1, D



Armour CM et al. (2000) Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles.


Armour CM et al. (2002) A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.


OMIM.ORG article

Omim 607004 [^]

Wikipedia article

Wikipedia EN (Brachydactyly) [^]
Update: April 29, 2019