Alopecia-Contractures-Dwarfism Mental Retardation Syndrome

Clinical Features

Schinzel (1980) reported a female patient with alopecia and severe growth and mental retardation. He noted previous reports of 2 similar cases, one of which was in an offspring of first-cousin parents. These 2 patients died in the first year of life.

van Gelderen (1982) described a 16-year-old boy, born to first-cousin parents, who had thoracic kyphoscoliosis, bilateral dislocation of the hips, and contracture of multiple joints present from birth. The elbows, fingers, and knees lacked full extension. All fifth digits were short with particularly shortened second phalanges. Slight cutaneous syndactyly of all digits was present also. The intercanthal distance was increased and marked myopia was present. The nose was prominent, the skull turridolichocephalic, and the ears rather large and soft. At 15.7 years of age he was 122.5 cm tall. The teeth were described as showing severe enamel dysplasia and caries. The IQ was about 40.

Dumic et al. (2000) described 2 brothers with what appeared to be the same disorder. In addition to mental deficiency, they showed short stature of prenatal onset, microcephaly, alopecia/sparse hair, follicular ichthyosis, multiple skeletal anomalies, and recurrent respiratory infections. The younger brother had celiac disease, cryptorchidism, inguinal herniae, and hypohidrosis, while the older brother had hidrotic ectodermal dysplasia, juvenile autoimmune thyroiditis, hypolacrimation, photophobia, and optic atrophy. The brothers showed multiple joint contractures and fusions of various bones, particularly elbows, carpals, metacarpals, and spine.

Inheritance

Consanguineous families and affected sibs support autosomal recessive inheritance of this disorder (van Gelderen, 1982; Dumic et al., 2000).