Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Brachydactyly type A2

Brachydactyly type Farabee is an autosomal dominant disorder with heterogeneous genetic background. Mutations are found in the following genes BMPR1B, BMP2, and GDF5. Characteristic is a shortage middle phalanges of index and little finger. Patients exhibit a short stature and some other skeletal abnormalities.

Systematic

Brachydactyly
Brachydactyly type A1
Brachydactyly type A2
BMPR1B
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.

Dathe K et al. (2009) Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

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2.

Su P et al. (2011) A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family.

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3.

Freire-Maia N et al. (1980) Mohr-Wriedt (A2) brachydactyly: analysis of a large Brazilian kindred.

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4.

Seemann P et al. (2005) Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

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5.

Plöger F et al. (2008) Brachydactyly type A2 associated with a defect in proGDF5 processing.

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6.

Kjaer KW et al. (2006) A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.

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7.

Lehmann K et al. (2006) A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

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8.

Lehmann K et al. (2003) Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.

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9.

None (1972) Brachydactyly type A 2 in an American Negro family.

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10.

OMIM.ORG article

Omim 112600 [^]
11.

Orphanet article

Orphanet ID 93396 [^]
12.

Wikipedia article

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