Autosomal dominant cutis laxa-3 (ADCL3) is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).
For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (123700). [from OMIM]
- MedGen UID:
- 899774
- •Concept ID:
- C4225268
- •
- Disease or Syndrome