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Lipodystrophy-intellectual disability-deafness syndrome

Disease definition

Lipodystrophy-intellectual disability-deafness syndrome is an extremely rare form of genetic lipodystrophy (see this term), reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.

ORPHA:50811

Classification level: Disorder
  • Synonym(s):
    • Lipodystrophy-intellectual disability-hearing loss syndrome
    • Rajab-Spranger syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q78.8
  • OMIM: 608154
  • UMLS: C1842465
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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