Preferred Label : Schinzel-Giedion syndrome;
ICD-11 definition : 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).;
Origin ID : 1542318431;
Automatic exact mappings (from CISMeF team)
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).
