Steinfeld Syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Steinfeld syndrome is a very rare congenital disease with the main features of holoprosencephaly , malformations of radius , heart and kidneys .

Synonyms are: holoprosencephaly - radius, heart and kidney malformations;

The name refers to the author of the first description from 1982 by HJ Steinfeld.

distribution

The frequency is given as less than 1 in 1,000,000, so far fewer than 10 people have been reported. Inheritance is presumably autosomal dominant .

root cause

The cause is not yet known.

Clinical manifestations

Clinical criteria are:

  • Occur prenatally or immediately after birth
  • Holoprosencephaly
  • Reduction malformations of the limbs mainly on the radial side, absent thumbs, phocomelia
  • Heart defect
  • Kidney malformation
  • Absence of the gallbladder

In addition, there may be: vertebral anomalies, cleft lip and palate , microphthalmia , missing nose, ear dysplasia, hearing loss , coloboma and / or uvula bifida .

literature

  • GE Jones, L. Robertson, A. Maniyar, C. Shammas, MM Phelan, PC Vasudevan, GA Tanteles: Microform holoprosencephaly with bilateral congenital elbow dislocation; increasing the phenotypic spectrum of Steinfeld syndrome. In: American journal of medical genetics. Part A. Volume 170, number 3, March 2016, pp. 754-759, doi : 10.1002 / ajmg.a.37511 , PMID 26728615 .
  • CA Stevens: Steinfeld syndrome: Further delineation. In: American journal of medical genetics. Part A. Volume 152A, Number 7, July 2010, pp. 1789-1792, doi : 10.1002 / ajmg.a.33440 , PMID 20583155 .
  • MM Nöthen, G. Knöpfle, HJ Födisch, K. Zerres: Steinfeld syndrome: report of a second family and further delineation of a rare autosomal dominant disorder. In: American journal of medical genetics. Volume 46, Number 4, June 1993, pp. 467-470, doi : 10.1002 / ajmg.1320460426 , PMID 8357025 .

Individual evidence

  1. ↑ a b c Steinfeld syndrome. In: Orphanet (Rare Disease Database).
  2. ^ HJ Steinfeld: Case report 81: holoprosencephaly and visceral defects with familial limb abnormalities. In: Syndrome Ident . Vol. 8, pp. 1-2, 1982.

Web links