/blepharophimosis - intellectual disability syndrome, SBBYS type

blepharophimosis - intellectual disability syndrome, SBBYS type

Rare Disease

MONDO:0011365

Also Known As

Ohdo syndrome, SBBYS variantSBBYSSSBBYSS syndromeSay-Barber-Biesecker-Young-Simpson syndromeblepharophimosis - intellectual disability syndrome, SBBYS typehypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndromeYoung-Simpson syndrome

Definition

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.