Preferred Label : Cranio-facio-cardio-skeletal syndrome;
ICD-11 definition : Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia,
cardiomegaly, and dysmorphism. Dysmorphic features include macrocephaly and a coarse
facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal
bridge, anteverted nares, long and large philtrum, prominent mouth with full lips
and macroglossia.;
ICD-11 synonym : Cantu syndrome;
Origin ID : 1451669698;
Currated CISMeF NLP mapping
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia,
cardiomegaly, and dysmorphism. Dysmorphic features include macrocephaly and a coarse
facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal
bridge, anteverted nares, long and large philtrum, prominent mouth with full lips
and macroglossia.
