Congenital macroglossia

Orpha code: 2430OMIM code: 153630

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl