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Isolated congenital hypoglossia/aglossia

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Disease 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.

ORPHA:141152

Classification level: Disorder

Prevalence: Unknown

Inheritance: -

Age of onset: Infancy, Neonatal

ICD-10: Q38.3

ICD-11: LA31.1

OMIM: 612776

UMLS: C5680636

A summary on this disease is available in Français (2020) Español (2020) Italiano (2008) Português (2008) Nederlands (2020)
Additional information
The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.