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wrinkly skin syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Wrinkly skin syndrome (WSS) 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).
Uniprot Description A rare autosomal recessive disorder 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 musculoskeletal abnormalities, microcephaly, growth failure and developmental delay.
Mondo Term and Equivalent IDs
MONDO:0010208:  wrinkly skin syndrome
GARD:0000273: 
MESH:C536750: 
Orphanet:2834: 
SCTID:238875009: 
UMLS:C0406587: