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Isolated congenital hypoglossia/aglossia

ORPHA:141152· ICD-10 Q38.3

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.

Prevalence
Unknown
Age of onset
Infancy, Neonatal