/cleft palate with or without ankyloglossia, X-linked

cleft palate with or without ankyloglossia, X-linked

Rare Disease

MONDO:0010560

Also Known As

X-linked cleft palate and ankyloglossiacleft palate with ankyloglossiacleft palate with or without ankyloglossia, X-linkedCPXX-linked cleft palatecleft palate X-linkedcleft palate, X-linked

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.