Isolated congenital hypoglossia/aglossia

Orpha code: 141152OMIM code: 612776

Definition

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
Classification

Morphological anomaly

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

No additional description.

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