Braddock-Jones-Superneau Syndrome

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Classification according to ICD-10
Q03.1 Atresia of the median aperture [foramen magendii] or the lateral aperture [foramina Luschkae] of the fourth ventricle - including: Dandy-Walker syndrome
Q75.0 Craniosynostosis
ICD-10 online (WHO version 2019)

The Braddock Jones Superneau syndrome is a very rare congenital disease with the main features of craniosynostosis , Dandy-Walker malformation and hydrocephalus .

Synonyms are: autosomal dominant hydrocephalus; HDCPH1

The name refers to the first authors of the first description from 1993 by the American pediatricians Stephen R. Braddock, Kenneth L. Jones, Duane W. Superneau and Marilyn C. Jones.

The syndrome should not be confused with Braddock syndrome .

distribution

The frequency is given as less than 1 in 1,000,000, so far four people have been reported to be affected. Inheritance is presumably autosomal dominant .

root cause

The disease is based on mutations on chromosome 8 locus q12.2-q21.2, the exact gene is not yet known.

Clinical manifestations

Clinical criteria are:

diagnosis

The diagnosis is based on clinical findings.

literature

  • Jesse M. Hunter, Jeff Kiefer et al. a .: Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification. In: American Journal of Medical Genetics Part A. 167, 2015, p. 931, doi: 10.1002 / ajmg.a.36934 .
  • Stephen RF Twigg, Jennifer Forecki u. a .: Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability. In: The American Journal of Human Genetics. 97, 2015, p. 378, doi: 10.1016 / j.ajhg.2015.07.007 .

Individual evidence

  1. ↑ a b c d Craniosynostosis - Dandy Walker malformation - hydrocephalus. In: Orphanet (Rare Disease Database).
  2. ^ SR Braddock, KL Jones, DW Superneau, MC Jones: Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus: a unique multiple malformation syndrome. In: American journal of medical genetics. Volume 47, Number 5, October 1993, pp. 640-643, doi: 10.1002 / ajmg.1320470512 , PMID 8266990 .
  3. ↑ Hydrocephalus, autosomal dominant.  In: Online Mendelian Inheritance in Man . (English)

Web links