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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).
ORPHA:2749Classification level: Group of disorders
- Oroacral syndrome
- Prevalence: 1-9 / 1 000 000
- Inheritance: -
- Age of onset: Infancy, Neonatal
- ICD-10: Q87.5
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: 4116
- MedDRA: -
Prevalence is estimated at 1:500,000.
The clinical features are evident at birth. Intelligence is normal.
Etiology remains unknown.