AREDYLD syndrome

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Classification according to ICD-10
Q82.4 Ectodermal dysplasia (anhidrotic)
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The AREDYLD syndrome , acronym for A KRAL R enale E ktodermale Dy splasie, L ipatrophischer D iabetes, is a very rare hereditary disease with a combination of dysplasia of the extremities and kidney , ectodermal dysplasia and diabetes mellitus .

Synonyms are: English ACRORENAL FIELD DEFECT, ECTODERMAL DYSPLASIA, AND LIPOATROPHIC DIABETES

The name was coined by the first author of the first description from 1983 by the Brazilian doctor Marta Pinheiro .

distribution

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

literature

  • EJ Breslau-Siderius, J. Toonstra, JA Baart, HP Koppeschaar, JA Maassen, FA Beemer: Ectodermal dysplasia, lipoatrophy, diabetes mellitus, and amastia: a second case of the AREDYLD syndrome. In: American journal of medical genetics. Vol. 44, No. 3, October 1992, pp. 374-377, doi: 10.1002 / ajmg.1320440321 , PMID 1488989 .

Individual evidence

  1. ↑ a b AREDYLD syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ AREDYLD syndrome.  In: Online Mendelian Inheritance in Man . (English)
  3. ↑ M. Pinheiro, N. Freire-Maia, EA Chautard-Freire-Maia, LM Araujo, B. Liberman: AREDYLD: a syndrome combining an acrorenal field defect, ectodermal dysplasia, lipoatrophic diabetes, and other manifestations. In: American journal of medical genetics. Vol. 16, No. 1, September 1983, pp. 29-33, doi: 10.1002 / ajmg.1320160106 , PMID 6638067 .