Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized 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. The disease is MONDO_0011365 (blepharophimosis - intellectual disability syndrome, SBBYS type). Also known as: Ohdo syndrome, SBBYS variant, SBBYSS, SBBYSS syndrome, Say-Barber-Biesecker-Young-Simpson syndrome, hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome.