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Schinzel Giedion Syndrome

Abstract

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Synonyms of Schinzel Giedion Syndrome

  • Schinzel-Giedion Midface-Retraction Syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

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.

Organizations related to Schinzel Giedion Syndrome

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