Preferred Label : Young-Simpson syndrome;
ICD-11 definition : This syndrome is characterised 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.;
ICD-11 synonym : Hypothyroidism - dysmorphism - postaxial polydactyly - intellectual deficit;
Origin ID : 1678403283;
Currated CISMeF NLP mapping
This syndrome is characterised 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.
