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.
VISS syndrome- MedGen UID:
- 1794165
- •Concept ID:
- C5561955
- •
- Disease or Syndrome
VISS syndrome is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay (Van Gucht et al., 2021). Immune dysregulation has been observed in some patients (Ziegler et al., 2021).
Restrictive dermopathy 1- MedGen UID:
- 1812447
- •Concept ID:
- C5676878
- •
- Disease or Syndrome
A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.