Oromandibular-Limb Hypogenesis Syndrome

Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis; see these terms) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).

Epidemiology

Prevalence is estimated at 1:500,000.

Clinical description

The clinical features are evident at birth. Intelligence is normal.

Etiology

Etiology remains unknown.