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Keppen-Lubinsky syndrome

Disease definition

A rare, genetic, primary lipodystrophy syndrome characterized by severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. Laboratory analysis of serum and urine are normal.


Classification level: Disorder
  • Synonym(s):
    • Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: E88.1
  • OMIM: 614098
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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