Brachydactyly type A6
Overview
Osebold et al. (1985) described a kindred in which 7 members had a constellation of skeletal anomalies which appeared to constitute a 'new' syndrome. The middle phalanges of the hands and feet were hypoplastic or absent. The limbs showed mesomelic shortening, and the affected persons were in general somewhat short. The terminal phalanges of the index fingers deviated radially. In younger members x-rays showed delayed coalescence of bipartite calcanei. All were of normal intelligence. In the wrist the hamate and capitate bones were joined. Male-to-male transmission was observed and affected persons were found in 3 generations.
Symptoms
* Underdeveloped middle bones of digits * Absence of middle bones of digits * Radial deviation of index finger * Mesomelic limb shortening * Reduced distal joint motion
Diagnosis
The phrase "signs of Brachydactyly type A6" should, strictly speaking, refer only to those signs and symptoms of Brachydactyly type A6 that are not readily apparent to the patient.