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X-linked cleft palate and ankyloglossia

Disease 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.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: X-linked recessive or X-linked dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q38.6
  • OMIM: 303400
  • UMLS: -
  • MeSH: -
  • GARD: 1394
  • MedDRA: -
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