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.
MONDO:0000734
Ohdo syndrome and variants
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
MONDO:0005151
endocrine system disorder
is_a
Ohdo syndrome, SBBYS variant
exact
SBBYSS
exact
SBBYSS syndrome
exact
Say-Barber-Biesecker-Young-Simpson syndrome
exact
blepharophimosis - intellectual disability syndrome, SBBYS type
exact
hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome
exact
SPAC17G8.13c