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wrinkly skin syndrome
Epidemiology: rate
Genetics:
- autosomal recessive
- associated with defects in ATP6V0A2
Clinical manifestations:
- wrinkling of the skin of the dorsum of the hands & feet
- an increased number of palmar & plantar creases
- wrinkled abdominal skin
- multiple musculoskeletal abnormalities
- microcephaly
- growth failure
- developmental delay
Note:
- the N-terminus peptide may increase IL1B secretion by peripheral blood monocytes; however, this region is probably in the cytosol, thus, the in vivo relevance is uncertain
General
skin disease (dermatologic disorder, dermatopathy, dermatosis)
genetic syndrome (multisystem disorder)
genetic disease of the skin (genodermatosis)
Database Correlations
OMIM 278250
References
OMIM :accession 278250