Catalog

Schinzel-Giedion syndrome

No MMS code

Link to WHO Definition

Schinzel-Giedion syndrome – http://id.who.int/icd/entity/1542318431

Schinzel-Giedon syndrome is a rare genetic autosomal recessive multiple anomalies syndrome including severe facial dysmorphism (hypoplastic middle part of the face, ocular proptosis, deep groove under the lower eyelid, hypertelorism, and overall coarse features), lack of closure of fontanelles, a short neck with excess skin, urogenital malformations (uni- or bilateral hydronephrosis, micropenis or hypospadias in males and hypoplastic majora and minora labia in females), and skeletal disorders (synchondrosis of the exo- and supraoccipital bones that disappears within the first months; sclerosis of the base of the skull; wide ribs; hypoplastic pubian bones, often thickened diaphyses of long bones).