Hemifacial Hyperplasia With Strabismus

Clinical Features

Hemifacial hyperplasia (133900) involves abnormal growth of the facial skeleton and its soft tissue structure and viscera. The neurocranium and eyeball are unaffected. Bencze et al. (1973) described 3 generations of a family demonstrating left-sided hemifacial hyperplasia localized in the zygomatic and mandibular angle areas. The maternal grandmother of this kindred had facial asymmetry only, whereas 1 son and 1 daughter had the same facial asymmetry with the daughter also showing amblyopia of the eye on the affected side. This daughter had 5 affected offspring; all also showed convergent strabismus of the eye on the affected side, 1 showed convergent strabismus on the unaffected side, and 2 showed alternating strabismus. Three of the sibs showed amblyopia on the affected side, but the 2 with alternating strabismus showed no amblyopia. Bencze et al. (1973) maintained that the hemifacial hyperplasia and ophthalmic problems in this family had a common genetic basis.

Kurnit et al. (1979) reported a second family with Bencze syndrome and expanded the phenotype to include submucous cleft palate.

Inheritance

Male-to-male transmission in the family reported by Kurnit et al. (1979) supported autosomal dominant inheritance.