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

Notes

• 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

More general terms

• skin disease (dermatologic disorder, dermatopathy, dermatosis)
• genetic syndrome (multisystem disorder)
• genetic disease of the skin (genodermatosis)

Database

• OMIM: https://mirror.omim.org/entry/278250