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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).

Parents

Annotation

Disease association

MONDO:0010208 - wrinkly skin syndrome

References:

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