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Wrinkly skin syndrome

Orpha number ORPHA2834
Synonym(s) WSS
Wrinkled skin syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10
  • Q82.8
OMIM
UMLS
  • C0406587
MeSH
  • C536750
MedDRA -
SNOMED CT
  • 238875009

Summary

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).

Prevalence is unknown but only around 30 cases have been reported in the literature so far.

Although the clinical picture is milder, WSS also shows significant overlap with classic features of ARCL2 (also known as Debré-type cutis laxa), leading to the suggestion that WSS and ARCL2 are variable manifestations of the same disorder. The clinical spectrum in WSS also closely resembles that of geroderma osteodysplastica (GO) and to some extent that of De Barsy syndrome (DBS; see these terms).

Although the etiology in some patients remains unknown, mutations in the ATP6V0A2 gene (12q24.31) have been identified both in patients with WSS and in those with autosomal recessive cutis laxa (ARCL) type 2 (see this term). Mutations in the PYCR1 gene (17q25.3) have recently been identified in patients with phenotypes (wrinkly skin, osteopenia and progeroid features) overlapping with ARCL2, GO and DBS.

Histological findings are not pathognomonic for WSS (elastic fiber abnormalities may be mild or nonspecific) but may allow WSS to be distinguished from ARCL2 and ARCL1 (see this term).

WSS is transmitted in an autosomal recessive manner.

Treatment is symptomatic.

Patients with WSS syndrome have a variable outcome. The prognosis depends on the underlying mutation and appears to be most benign in children with a mutation in the ATP6V0A2 gene.

Expert reviewer(s)

  • M GUILLARD
  • Dr Dirk LEFEBER
  • Dr Eva MORAVA
  • Pr Ron WEVERS

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Detailed information

Clinical genetics review
  • EN (2011)
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