Orphanet: Blepharophimosis intellectual disability syndrome, SBBYS type

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Blepharophimosis-intellectual disability syndrome, SBBYS type

Disease definition

A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present.


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

Detailed information

General public


Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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