Catalog

De Grouchy syndrome

No MMS code

Link to WHO Definition

De Grouchy syndrome – http://id.who.int/icd/entity/562718016

Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18. The dysmorphic syndrome is very moderate and non-specific. The main clinical features are short stature, round face with short philtrum, palpebral ptosis and large ears with detached pinnae. Intellectual deficiency is mild to moderate. A small subset of patients, about 10 to 15 percent of cases, present with severe brain/facial malformations evocative of holoprosencephaly spectrum disorders.