Oromandibular-limb hypogenesis syndrome

Orpha code: 2749OMIM code:

Definition

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).

Disease data
Classification

Clinical group

Synonyms
Oroacral syndrome
Zespół ustno-kończynowy
ORPHA code
2749
OMIM code
-
ICD10 code
Q87.5
ICD11 code
-

No additional description.

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