Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Brachydactyly type A1, C

Brachydactyly type A1, C is an autosomal dominant disorder caused by mutations of the GDF5 gene. 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
GDF5
Brachydactyly type A1, D

References:

1.

Byrnes AM et. al. (2010) Mutations in GDF5 presenting as semidominant brachydactyly A1.

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Update: Sept. 26, 2018