Catalog

Cornelia de Lange syndrome

No MMS code

Link to WHO Definition

Cornelia de Lange syndrome – http://id.who.int/icd/entity/1801560012

Cornelia de Lange syndrome is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (i.e. heart, kidney).