Schinzel-Giedion syndrome

Classification according to ICD-10
Q87.0	Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)

The Schinzel-Giedion syndrome is a hereditary malformation syndrome with characteristic facial changes, skeletal changes and low life expectancy.

The name refers to the authors of the first description from 1978 by the Austrian human geneticist Albert Schinzel and the Swiss children's radiologist Andres Giedion .

The disease is not to be confused with the ulna-mammary syndrome , also known as Schinzel syndrome .

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

root cause

The disease is based on mutations in the SETBP1 gene at location 18q12.3.

Clinical manifestations

Clinical criteria are:

Shortened skull base , sunken midface, choanal atresia or stenosis

Prominent forehead, hypertelorism , sunken nose bridge

Short neck with a lot of skin

Postaxial polydactyly , hypoplasia of the terminal links of the finger bones and nails, four- finger furrow
Heart defect
Kidney malformations ( hydronephrosis )
Genital malformations such as micropenis , hypospadias , labial hypoplasia
Clubfoot , hypertrichinosis (increased body hair)
Short stature , severe developmental retardation

diagnosis

In the X-ray image , a sclerosis of the skull base, lack of fusion of the skull bones with wide-open place fontanelles and cranial sutures and numerous switching bones addition be widened ribs and abnormally long clavicles ago, a severe hypoplasia of the parietal and frontal bone and the pubic bone. By detecting the kidney malformations with sonography , a suspected diagnosis can be made in the womb.

Prospect of healing

Many children die in the first few weeks of life. The surviving children develop a tendency to cramp in the following months .

literature

M. Al-Mudaffer, C. Oley, S. Price, I. Hayes, A. Stewart, CM Hall, W. Reardon: Clinical and radiological findings in Schinzel-Giedion syndrome. In: European Journal of Pediatrics. Vol. 167, No. 12, December 2008, ISSN 1432-1076 , pp. 1399-1407, doi: 10.1007 / s00431-008-0683-4 , PMID 18461363 .

Individual evidence

↑ ^a ^b ^c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
↑ A. Schinzel, A. Giedion: A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. In: American journal of medical genetics. Vol. 1, No. 4, 1978, ISSN 0148-7299 , pp. 361-375, doi: 10.1002 / ajmg.1320010402 , PMID 665725 .
↑ ^a ^b ^c ^d ^e Schinzel-Giedion syndrome. In: Orphanet (Rare Disease Database).
↑ Schinzel-Giedion syndrome. In: Online Mendelian Inheritance in Man . (English)
↑ W. Schuster, D. Färber (editor): Children's radiology. Imaging diagnostics. Springer 1996, Vol. 1, ISBN 3-540-60224-0 , p. 421.

[Leiber-1] Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

[2] A. Schinzel, A. Giedion: A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. In: American journal of medical genetics. Vol. 1, No. 4, 1978, ISSN 0148-7299 , pp. 361-375, doi: 10.1002 / ajmg.1320010402 , PMID 665725 .

[Orpha-3] Schinzel-Giedion syndrome. In: Orphanet (Rare Disease Database).

[4] Schinzel-Giedion syndrome. In: Online Mendelian Inheritance in Man . (English)

[5] W. Schuster, D. Färber (editor): Children's radiology. Imaging diagnostics. Springer 1996, Vol. 1, ISBN 3-540-60224-0 , p. 421.