Angel-Shaped Phalangoepiphyseal Dysplasia

Clinical Features

Bachman and Norman (1967) reported the cases of mother and 2 children with what they referred to as peripheral dysostosis (see 170700). The 47-year-old mother, 61.5 inches tall, had marked hyperextensibility of the fingers and precocious osteoarthritis of the hips. A son and daughter had very flexible fingers and, on x-rays of the hands, delay in carpal ossification, proximal pseudoepiphyses of metacarpals 2-5, cone-cup-epiphyses-metaphyses, and widened joint spaces. Other joints showed extensive changes with widening of joint spaces and irregular epiphyses. The mother's mother and several relatives on her side also had hyperextensibility of the fingers and premature osteoarthritis of the fingers. This may have been the Fairbank type of multiple epiphyseal dysplasia (132400).

Giedion et al. (1993) stated that Bachman and Norman (1967) had overlooked a characteristic feature of the disorder, i.e., change in the middle phalanges, which they called 'angel-shaped phalanx.' They noted that the change results from the combined disturbance of development affecting epiphysis, diaphysis, and metaphysis and leads to an appearance resembling the little angels used in the decoration of Christmas trees. The wings are formed by a diaphyseal cuff, the skirt by a cone-shaped epiphysis, and the head by the distal pseudoepiphysis. Based on this and another family, as well as 2 isolated patients with similar radiographic and clinical findings, Giedion et al. (1993) delineated a probable autosomal dominant disorder which they called angel-shaped phalango-epiphyseal dysplasia, or ASPED. The angel-shaped phalanges became brachydactyly after closure of the epiphyses. (As pointed out by Giedion et al. (1993), brachydactyly is relatively inconspicuous; see their Figure 4.) Severe osteoarthritic changes of the hips (coxarthrosis) developed at an early age. Hyperextensibility of the interphalangeal joints was present in 7 of their 9 cases and hypodontia in 4 of 7 patients.

Camera et al. (2003) described angel-shaped phalanx in a boy with oromandibular limb hypogenesis (103300).

Inheritance

Giedion et al. (1993) suggested that ASPED is an autosomal dominant disorder.