Catalog

Iris coloboma with ptosis - intellectual deficit

No MMS code

Link to WHO Definition

Iris coloboma with ptosis - intellectual deficit – http://id.who.int/icd/entity/517053261

Iris coloboma with ptosis - intellectual deficit syndrome is characterised by iris coloboma with ptosis and intellectual deficit. It has been reported in ten cases so far. The clinical picture includes dysmorphism with eye abnormalities (iris coloboma, microphthalmos, microcornea bilateral ptosis, hypertelorism, epicanthus inversus, broad and flat nasal bridge), brain malformations (agyria-pachygyria), intellectual deficiency and postnatal growth retardation.