Isolated congenital hypoglossia/aglossia

Orpha code: 141152OMIM code: 612776

Definicja

A rare head and neck malformation characterized by congenital partial (hypoglossia) or total (aglossia) absence of the tongue. Patients present feeding and respiratory difficulties, as well as delayed speech development and slurred speech. Taste perception is not severely compromised. Associated features include a characteristic facies due to mandibular transverse arch deficiency, oligodontia, and malocclusion, among others.

Disease data
Klasyfikacja

Morphological anomaly

Kod ORPHA
141152
Kod OMIM
612776
Kod ICD10
Q38.3
Kod ICD11
-

No additional description.

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