Oromandibular-limb hypogenesis syndrome
ORPHA:2749
Definition
Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) 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).
- Prevalence
- 1-9 / 1 000 000
- Age of onset
- Infancy, Neonatal