ALDH18A1-related de Barsy syndrome- MedGen UID:
- 1720006
- •Concept ID:
- C5234852
- •
- Disease or Syndrome
De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).
For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see 219100.
Genetic Heterogeneity of de Barsy Syndrome
Also see ARCL3B (614438), caused by mutation in the PYCR1 gene (179035) on chromosome 17q25.