Schinzel-Giedon's syndrome is a rare genetic autosomal recessive disease causing multiple malformations. These include severely deformed facial features (hypoplastic middle part of the face, ocular proptosis, deep groove under the lower eyelid, hypertelorism, and overall coarse features). Bones are not fused and fontanelles are widely open. The neck is short and has excess skin. Urogenital malformations are practically systematic: uni- or bilateral hydronephrosis is the most common renal disorder, while micropenis or hypospadias are often found in males and hypoplastic majora and minora labia in females. Skeletal disorders are also one of the main manifestations of the syndrome: 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, diaphyses of long bones are often thickened. Other malformations have been reported (heart, choanae...) but are unconstant. The outcome of the syndrome is often fatal within the first weeks of life. Children who survive are severely retarded and develop epileptic seizures within a few months. No specific biologic or genetic marker is available for the time being. Caryotypes are all normal, even when using high resolution techniques. Prenatal diagnosis can be made based on morphological criteria and more particularly renal malformations.
Last update: January 2004