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Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

Disease definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by unilateral or bilateral cleft lip and palate and craniofacial dysmorphism (including frontal bossing, hypertelorism, broad flat nasal bridge, cupped ears/thickened helices, and micrognathia). Additional manifestations are variable congenital cardiac anomalies, pectus excavatum, abnormalities of the hands and feet, ocular abnormalities (myopia, cataract, staphyloma), and conductive or sensorineural hearing loss.

ORPHA:508476

Classification level: Disorder
  • Synonym(s):
    • Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome
    • Hyaluronidase 2 deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: -
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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