Wrinkly Skin Syndrome

From Anvita Health Wiki

Contents 1 Epidemiology 2 Genetics 3 Clinical-manifestations 4 Notes 5 More General Terms 6 Internet Database 7 References

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)

Internet Database

OMIM: 278250

References

OMIM [1]

wrinkly skin syndrome