Schinzel Giedion Syndrome
It is possible that the main title of the report Schinzel Giedion Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Schinzel-Giedion Syndrome is a very rare disorder with characteristic facial features, skeletal abnormalities, and obstruction of the tube that carries urine from the kidney to the bladder (ureter). This obstruction may lead to enlarged and damaged kidneys (hydronephrosis). Symptoms characteristic of Schinzel-Giedion syndrome also include excessive hair-growth (hypertrichosis), a flat midface (midface retraction), seizures, clubfeet, broad ribs, mental retardation, and short arms and legs.
National Foundation for Ectodermal Dysplasias
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Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126