Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Brachydactyly type A4

Brachydactyly type A4 is an autosomal dominant disorder which genetic background remains to be determined. Characteristic is a shortage middle phalanges, nail dysplasia, and duplication of the distal phalange of the thumb. Patients may exhibit a short stature and some other skeletal abnormalities.

Systematic

Brachydactyly
Brachydactyly type A1
Brachydactyly type A2
Brachydactyly type A3
Brachydactyly type A4
Brachydactyly type B1
Brachydactyly type B2
Brachydactyly type C
Brachydactyly type D
Brachydactyly type E1
Brachydactyly type E2
Brachydactyly types B and E combined
Brachydactyly-syndactyly
Fibular aplasia-complex brachydactyly syndrome

References:

1.

Cuevas-Sosa A et al. (1971) Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome.

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2.

None (1968) Familial absence of middle phalanges with nail dysplasia: a new syndrome.

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3.

Ohzeki T et al. (1993) Brachydactyly type A-4 (Temtamy type) with short stature in a Japanese girl and her mother.

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4.

Orphanet article

Orphanet ID 93394 [^]
5.

OMIM.ORG article

Omim 112800 [^]
6.

Wikipedia article

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