Hypomandibular Faciocranial Dysostosis

Description

Hypomandibular faciocranial syndrome consists of craniosynostosis, prominent eyes, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, severe mandibular hypoplasia, and various extracephalic anomalies (summary by Gorlin et al., 2001).

Clinical Features

Neidich et al. (1988) reported the case of a girl with unusual abnormalities mostly of first branchial arch derivatives. The mandible was nearly absent, and the maxillary and zygomatic arches were severely hypoplastic. Aglossia was suspected. Coronal craniosynostosis was present. Schimke et al. (1991) provided follow-up of this patient and reported the case of a more severely affected sister who died at the age of 6 months. She had bilateral optic nerve hypoplasia and severe bilateral choanal stenosis. Tracheostomy and gastrostomy were required. In both sibs the lips were tightly pursed and protruded. The first born had atrial septal defect and the second had patent ductus arteriosus (see 607411).

Ludman et al. (1993) reported a third case, with photographs showing the pursed and protruding lips. The oral aperture was minute, and persistent buccopharyngeal membrane and severe mandibular hypoplasia were found. The 2 earlier cases had coronal synostosis; the case of Ludman et al. (1993) had multiple sutural synostosis.

Inheritance

Ludman et al. (1993) pointed out that the occurrence of 2 affected sibs would be consistent with autosomal recessive inheritance as well as with gonadal mosaicism for a dominant mutation or for an undetected microdeletion.