AREDYLD syndrome
Appearance
AREDYLD syndrome | |
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AREDYLD syndrome is inherited in an autosomal recessive manner | |
Specialty | Endocrinology |
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
- ^ 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.
- ^ 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.