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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 external link
11.

Orphanet article

Orphanet ID 93396 external link
12.

Wikipedia article

Wikipedia EN (Brachydactyly) external link
Update: Aug. 14, 2020
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