Arthrogryposis, Distal, Type 4

Description

Distal arthrogryposis type 4 (DA4) is distinguished by the presence of scoliosis (summary by Bamshad et al., 2009).

For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).

Clinical Features

Hall et al. (1982) reported a large Mexican family with distal arthrogryposis and severe scoliosis. The authors referred to the disorder as distal arthrogryposis type IID.

Baraitser (1982) reported a family in which 9 members spanning 4 generations had scoliosis inherited in an autosomal dominant pattern. Seven of the patients also had camptodactyly, 5 had torticollis, and 4 were unable to straighten the elbow. The scoliosis varied from mild to severe, and at least 5 members had fusion of cervical vertebrae. One boy was severely mentally retarded.

Pagnan and Gollop (1987) reported 3 members of a Brazilian family with autosomal dominant inheritance of DAIID. The proband, a 5-year-old girl, had congenital camptodactyly, bilateral equinovarus deformity, secondary muscle hypoplasia of both legs, and severe mental retardation. Other features included low frontal and posterior hairline, hypoplastic forehead, bilateral horizontal nystagmus, osteopenia, and asymmetry of the calvaria. Spine films were normal. The patient's father had camptodactyly, congenital clubfoot, talus valgus deformity, tibial or fibular deviation of the toes, and syndactyly of several toes. Spinal imaging showed lumbar scoliosis and osteophyte formation of several vertebrae. He also showed nystagmus. The proband's uncle had features similar to those of the proband's father, and photos of a paternal grandfather suggested that he also had the same syndrome.

Nomenclature

In a revised and extended classification scheme of the distal arthrogryposes, Bamshad et al. (1996) referred to this disorder as distal arthrogryposis type 4 (DA4).