AREDYLD syndrome

AREDYLD syndrome
AREDYLD syndrome is inherited in an autosomal recessive manner

AREDYLD stands for acral renal ectodermal dysplasia lipoatrophic diabetes. AREDLYD is categorized as a rare disease, meaning it affects fewer than 200,000 people in the American population at any given time.

It was characterized in 1983.[1] A second case was identified in 1992.[2]

References

  1. Pinheiro M, Freire-Maia N, Chautard-Freire-Maia E, Araujo L, Liberman B (1983). "AREDYLD: a syndrome combining an acrorenal field defect, ectodermal dysplasia, lipoatrophic diabetes, and other manifestations". Am J Med Genet. 16 (1): 29–33. doi:10.1002/ajmg.1320160106. PMID 6638067.
  2. Breslau-Siderius E, Toonstra J, Baart J, Koppeschaar H, Maassen J, Beemer F (1992). "Ectodermal dysplasia, lipoatrophy, diabetes mellitus, and amastia: a second case of the AREDYLD syndrome". Am J Med Genet. 44 (3): 374–7. doi:10.1002/ajmg.1320440321. PMID 1488989.
This article is issued from Offline. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.