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Craniolenticulosutural dysplasia

Disease definition

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

ORPHA:50814

Classification level: Disorder
  • Synonym(s):
    • Boyadjiev-Jabs syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q75.8
  • OMIM: 607812
  • UMLS: C1843042
  • MeSH: -
  • GARD: -
  • MedDRA: -
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