Congenital macroglossia

Orpha code: 2430OMIM code: 153630

Definition

A rare developmental defect during embryogenesis characterized by muscular hypertrophy, adenoid hyperplasia, or vascular malformation that results in an enlarged, often protruding, tongue. Complications include difficulty in swallowing, breathing and mastication, drooling, dental and skeletal deformities, such as malocclusion, open bite, asymmetry in maxillary and mandibular arches. It may be isolated or associated with genetic syndromes.

Disease data
Classification

Malformation syndrome

ORPHA code
2430
OMIM code
153630
ICD10 code
Q38.2
ICD11 code
LA31.0

No additional description.

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