Meier-Gorlin syndrome 7- MedGen UID:
- 934705
- •Concept ID:
- C4310738
- •
- Disease or Syndrome
Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene.
Cutis laxa, autosomal recessive, type 2E- MedGen UID:
- 1794154
- •Concept ID:
- C5561944
- •
- Disease or Syndrome
Autosomal recessive cutis laxa type IIE (ARCL2E) is characterized by connective tissue features, including generalized cutis laxa and inguinal hernia, craniofacial dysmorphology, variable mild heart defects, and prominent skeletal features, including craniosynostosis, short stature, brachydactyly, clinodactyly, and syndactyly (Pottie et al., 2021).
For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (219100).