Schinzel-Giedion syndrome

Related people

A distinct dysmorphy syndrome of congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation.

Description

A distinct dysmorphy syndrome of congenital hydronephrosis, skeletal dysplasia, and severe developmental retardation.

The principal symptoms are coarse facies characterised by midface retraction, bulging forehead, facial hemangiomas, short nose with anteverted nostrils, malformed ears, protruding large tongue, and hypertelorism. Skeletal defects include open cranial sutures, steep short skull, wide occipital synchondrosis, multiple wormian bones, hypoplastic ribs, and broad ribs; limb defects consist of postaxial polydactyly, clubfoot, mesomelic brachymelia, and hypoplasia of distal phalanges. Choanal stenosis, redundant neck skin, hypoplastic nipples, strial septal defects, hypoplastic dermal ridges, simian creases, hyper convex nails, hypospadias, microphallus, hypertrichosis, and seizures are frequently associated. The affected patients usually die in infancy. Probably a single gene autosomal recessive disorder.

First described by Schinzel and Giedion i 1978. The eponymic term was coined by Kelley and McKusick.

The term Schinzel's syndrome has been used as a synonym for ulno-mammary syndrome type Pallister. Main entry as Pallister's syndrome, under Philip D. Pallister, American paediatrician and human geneticist, born 1920.

Bibliography

  • A. Schinzel, A. Giedion:
    A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs.
    American Journal of Medical Genetics, New York, 1978, 1: 361-375.
  • R. I. Kelley, E. H. Zackai, E. B. Charney:
    Congenital hydronephrosis, skeletal dysplasia and severe developmental retardation. The Schinzel-Giedion syndrome.
    Journal of Pediatrics, St. Louis, 1982, 100: 943-946.

What is an eponym?

An eponym is a word derived from the name of a person, whether real or fictional. A medical eponym is thus any word related to medicine, whose name is derived from a person.

What is Whonamedit?

Whonamedit.com is a biographical dictionary of medical eponyms. It is our ambition to present a complete survey of all medical phenomena named for a person, with a biography of that person.

Disclaimer:

Whonamedit? does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.