Catalog

De la Chapelle dysplasia

No MMS code

Link to WHO Definition

De la Chapelle dysplasia – http://id.who.int/icd/entity/248590292

Atelosteogenesis II is a autosomal recessive perinatal dysplasia characterised by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth.