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Blepharophimosis-intellectual disability syndrome, SBBYS type

Disease definition

Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.

ORPHA:3047

  • Synonym(s):
    • Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome
    • SBBYSS
    • Say-Barber-Biesecker-Young-Simpson syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 603736
  • UMLS: C1863557
  • MeSH: -
  • GARD: -
  • MedDRA: -
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