Disease association ontology term - MONDO:0010208 - wrinkly skin syndrome
Term summary
- ID
- MONDO:0010208
- Name
- wrinkly skin syndrome
- Ontology or CV name
- Disease association
- Definition
- A type of cutis laxa that is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).