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Синдром щелепно-лицьового та кінцівкового гіпогенезу

ORPHA:2749· Oromandibular-limb hypogenesis syndrome

Визначення(English summary)

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).

Поширеність
1-9 / 1 000 000
Вік початку
Infancy, Neonatal