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.

Systematic

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

References:

1.

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

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2.

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

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Update: Sept. 26, 2018