Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Brachydactyly types B and E combined

Ballard type brachydactyly is a shortage of the distal phalanges of the ulnar side. In contrast to other forms of brachydactyly patients have normal stature. Inheritance is autosomal dominant though the exact genetic defect remains to be determined.

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.

Pitt P et. al. (1985) A new brachydactyly syndrome with similarities to Julia Bell types B and E.

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2.

None (1968) Brachydactyly and pseudo-pseudohypoparathyroidism.

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3.

Jensen K et. al. (2004) Is brachydactyly type Ballard a variant of brachydactyly type E?

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Update: Sept. 26, 2018