Catalog

Cranio-facio-cardio-skeletal syndrome

No MMS code

Link to WHO Definition

Cranio-facio-cardio-skeletal syndrome – http://id.who.int/icd/entity/1451669698

Cantu syndrome is a rare disorder characterised 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.