Woods Syndrome

Clinical Features

Among the children of a Pakistani couple related as first cousins, Woods et al. (1992) observed a distinctive nonprogressive disorder characterized by variable phalangeal anomalies, microcephaly, pre- and postnatal growth retardation, poor vision, dystonic movements, characteristic face, and severe mental retardation. Three children, 2 girls and a boy, were affected. The 2 girls had bilateral complete cutaneous syndactyly of the third and fourth fingers; the boy had bilateral single palmar creases. All 3 children showed dystonic tongue movements with tongue protrusion. One of the children had an asymptomatic ventricular septal defect and the same child developed a venous varix behind the right eye, causing proptosis and occasional subluxation of the eye, during the second year. She had bilateral optic atrophy. The second sister also showed optic atrophy; ophthalmoscopy was not performed in the brother. The facies were described as showing broad and hairy forehead, broad nasal bridge, prominent columella, relatively hypoplastic alae nasi, short philtrum, and a straight mouth with thin lips. Woods et al. (1992) concluded that the condition in their family was different from Filippi syndrome (272440) because the facial appearances were different and children with Filippi syndrome do not have localizing neurologic signs.

For a similar craniofacial syndrome, see 251255.

Inheritance

Consanguinity in the family reported by Woods et al. (1992) suggested autosomal recessive inheritance of the disorder.