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Osteopenia-intellectual disability-sparse hair syndrome

Disease definition

Kaler-Garrity-Stern syndrome is a rare syndrome, described in two sisters of Mennonite descent, characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992.

ORPHA:2324

  • Synonym(s):
    • Kaler-Garrity-Stern syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 259690
  • UMLS: C1850140
  • MeSH: C537706
  • GARD: 354
  • MedDRA: -

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