X-linked cleft palate and ankyloglossia

Orpha code: 324601OMIM code: 303400

Definition

X-linked cleft palate and ankyloglossia is a rare, genetic developmental defect during embryogenesis syndrome characterized by the association of complete, partial or submucous cleft palate and ankyloglossia. Patients may also present abnormal uvula (e.g. absent, bifid, shortened or laterally deviated), short lingual frenulum and dental anomalies (e.g. buccal crossbite, absent and/or misshapen teeth). Digital abnormalities, such as mild clinodactyly and/or syndactyly, have also been reported.

Disease data
Classification

Malformation syndrome

ORPHA code
324601
OMIM code
303400
ICD10 code
Q38.6
ICD11 code
-

No additional description.

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