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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
A summary on this disease is available in
Français (2020)
Español (2020)
Italiano (2008)
Português (2008)
Nederlands (2020)
Additional information
Further information on this disease
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Newborn screening
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