Oromandibular-limb hypogenesis syndrome

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Oromandibular-limb hypogenesis syndrome

ORPHA:2749Clinical group

Also called Oroacral syndrome

What it is

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).

Key facts

Prevalence
1-9 / 1 000 000 (Europe)
Age of onset
Infancy, Neonatal
Classified as
Clinical group

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Cross-references

GARD 4116MONDO 0017139MONDO 17139UMLS C5679764

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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