Hypertelorism, Microtia, Facial Clefting Syndrome

Clinical Features

Bixler et al. (1969) described 2 sisters who had hypertelorism, microtia, and clefting of the lip, palate, and nose. In addition, they showed psychomotor retardation, atretic auditory canals, conductive hearing loss, mild micrognathia, microcephaly, thenar hypoplasia, and ectopic kidneys. Both had congenital heart malformations, as did several relatives on the mother's side. The parents were normal and unrelated.

Schweckendiek et al. (1976) described identical male twins with HMC syndrome.

Baraitser (1982) described a 1-month-old male infant with unilateral left-sided cleft lip, a cleft palate, gross hypertelorism, narrow palpebral fissures and a broad bifid nose. Both pinnae were malformed and the external meatus were stenosed. There was no cardiac murmur, and the renal tract appeared normal.

Amiel et al. (2001) reported 2 additional unrelated cases of hypertelorism, microtia, and facial clefting syndrome. Both patients were males of normal intelligence.