Digito-reno-cerebral 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)

A Digito-reno-cerebral syndrome is a very rare congenital disease that is characterized by the combination of missing nails and end members of the fingers and toes with abnormalities of the kidney and the brain. Synonyms are cerebro-renal syndrome , or after the first description Eronen syndrome or Eronen-Somer-Gustafsson syndrome , engl. digito-reno-cerebral syndrome , DRC syndrome for short .

Epidemiology

The frequency is given as less than 1: 1,000,000, inheritance is presumably autosomal - recessive .

However, it is still controversial whether the syndrome is not DOOR syndrome .

Individual evidence

  1. ↑ M. Eronen, M. Somer, B. Gustafsson, C. Holmberg: New syndrome: a digito-reno-cerebral syndrome. In: American journal of medical genetics. Volume 22, Number 2, October 1985, pp. 281-285, ISSN  0148-7299 . doi : 10.1002 / ajmg.1320220209 . PMID 4050858 .
  2. ↑ Digito-reno-cerebral syndrome. In: Orphanet (Rare Disease Database).
  3. ↑ RM Winter: Eronen syndrome identical with DOOR syndrome? In: Clinical genetics. Volume 43, Number 3, March 1993, p. 167, ISSN  0009-9163 . PMID 8500264 .

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