Disease association ontology term - MONDO:0013051 - autosomal recessive cutis laxa type 2B
Term summary
- ID
- MONDO:0013051
- Name
- autosomal recessive cutis laxa type 2B
- Ontology or CV name
- Disease association
- Definition
- Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.
