Blepharophimosis - intellectual disability syndrome, SBBYS type

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.

Also known as: Ohdo syndrome, SBBYS variant, SBBYSS, SBBYSS syndrome, Say-Barber-Biesecker-Young-Simpson syndrome, blepharophimosis - intellectual disability syndrome, SBBYS type, hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome, Young-Simpson syndrome

10 clinical trials for this condition and its sub-types.