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Cleft lip/palate-deafness-sacral lipoma syndrome

Disease definition

Cleft lip/palate-deafness-sacral lipoma syndrome is characterised by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive.


Classification level: Disorder
  • Synonym(s):
    • Cleft lip/palate-hearing loss-sacral lipoma syndrome
    • Lowry-Yong syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q87.8
  • ICD-11: LD2H.Y
  • OMIM: -
  • UMLS: C4274888
  • MeSH: -
  • GARD: -
  • MedDRA: -
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