Wiedemann-Steiner Syndrome

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q87.1 Congenital malformation syndromes that are predominantly associated with short stature
ICD-10 online (WHO version 2019)

The Wiedemann-Steiner's syndrome is a very rare congenital disease with the main features of hypertrichosis , short stature , facial dysmorphia and mental retardation .

Synonyms are: hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome

The name refers to the first authors of the first description from 1989 by Hans-Rudolf Wiedemann and colleagues as well as a report from 2000 by CE Steiner and AP Marques.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant or X-linked recessive .

root cause

The disease are mutations in KMT2A - gene on chromosome 11 locus q23.3 basis.

Clinical manifestations

Clinical criteria are:

  • Manifestation in the newborn or toddler
  • Short stature
  • Facial dysmorphism with hypertelorism , thickened eyebrows, wide and long nose, long philtrum
  • Hypertrichosis
  • Developmental retardation and intellectual disability

In addition, there may be hypotonia , persistent ductus arteriosus , small hands and feet, behavioral problems and seizures .

literature

  • G. Stoyle, S. Banka, C. Langley, EA Jones, I. Banerjee: Growth hormone deficiency as a cause for short stature in Wiedemann-Steiner Syndrome. In: Endocrinology, diabetes & metabolism case reports. Volume 2018, 2018, S., doi: 10.1530 / EDM-18-0085 , PMID 30159147 , PMC 6109209 (free full text).
  • N. Lebrun, I. Giurgea, A. Goldenberg, A. Dieux, A. Afenjar, J. Ghoumid, B. Diebold, L. Mietton, A. Briand-Suleau, P. Billuart, T. Bienvenu: Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome. In: European Journal of Human Genetics . Volume 26, number 1, 01 2018, pp. 107–116, doi: 10.1038 / s41431-017-0033-y , PMID 29203834 , PMC 5839021 (free full text).
  • A. Aggarwal, DF Rodriguez-Buritica, H. Northrup: Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. In: European journal of medical genetics. Volume 60, number 6, June 2017, pp. 285-288, doi: 10.1016 / j.ejmg.2017.03.006 , PMID 28359930 (review).
  • Y. Sun, G. Hu, H. Liu, X. Zhang, Z. Huang, H. Yan, L. Wang, Y. Fan, X. Gu, Y. Yu: Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. In: American journal of medical genetics. Part A. Volume 173, number 2, February 2017, pp. 510-514, doi: 10.1002 / ajmg.a.38025 , PMID 27759909 (review).

Individual evidence

  1. ↑ a b c Wiedemann-Steiner syndrome. In: Orphanet (Rare Disease Database).
  2. ^ HR Wiedemann, J. Kunze, FR Grosse, H. Dibbern: A syndrome of abnormal facies, short stature, and psychomotor retardation. : In: Atlas of Clinical Syndromes: A Visual Aid to Diagnosis for Clinicians and Practicing Physicians . (2nd edition), 1989, pp. 198-199.
  3. ↑ CE Steiner, AP Marques: Growth deficiency, mental retardation and unusual facies. In: Clinical dysmorphology. Volume 9, Number 2, April 2000, pp. 155-156, PMID 10826636 .
  4. ↑ Wiedemann-Steiner syndrome.  In: Online Mendelian Inheritance in Man . (English)

Web links