Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome

Clinical Features

Scott-Emuakpor et al. (1977) described a family in which 4 of 7 sibs (3 girls, 1 boy) were born with microcephaly, and later developed cataracts, severe spasticity, bilateral hip dislocation, kyphoscoliosis, and severe mental retardation (CAMFAK syndrome). On the father's side 10 persons, including a 17-year-old uncle of the patients, had died of amyotrophic lateral sclerosis (105400), which was apparently inherited as an autosomal dominant with incomplete penetrance. No signs of anterior horn cell disease were present in the 4 sibs.

Talwar and Smith (1989) presented evidence that the CAMFAK syndrome is a neurologic disease characterized by peripheral and central demyelination similar to that seen in Cockayne syndrome (216400).

Lowry et al. (1971) described brother and sister with cataract, microcephaly, arthrogryposis, and kyphosis (CAMAK syndrome). Low birth weight, cataracts noted at 3 weeks, progressive limitation of range of all joint motion, and progressive kyphosis were features. Dolman and Wright (1978) described the necropsy findings in the sister, who died at age 7. The child weighed only 7.6 kg and measured only 78 cm (crown heel). The face had a bird-like appearance, raising, perhaps, the possibility of Seckel dwarfism (210600). The brain weighed only 360 gm. The cerebellum was particularly small. Extensive calcification was found microscopically in both the cerebrum and the cerebellum.

Sugarman (1973) suggested that CAMAK syndrome might represent an early form of Cockayne syndrome. Winter (1989) felt almost certain that both CAMFAK and CAMAK syndromes represent early-onset Cockayne syndrome, with Pena-Shokeir syndrome type II (214150) as an alternative possibility.

Czeizel and Lowry (1990) likewise agreed that the CAMAK and CAMFAK syndromes are the same. They described a brother and sister with cataracts, microcephaly, mental retardation, and changes in the hips resembling Perthes disease. Classic galactosemia and galactokinase deficiency (230200) were ruled out. Martsolf syndrome (212720) likewise combines cataract and mental retardation.