GARD:
19
Wrinkly skin syndrome is a genetic condition characterized by sagging or wrinkly skin, reduced skin elasticity, and delayed closure of the fontanel (a baby's "soft spot" on the top of his/her head). Other associated signs and symptoms vary widely. Case reports suggest that this condition is often inherited in an autosomal recessive fashion. It can be caused by genetic changes in the ATP6VOA2 gene. Wrinkly skin syndrome appears to be represent the mild version of autosomal recessive cutis laxa syndrome type 2.
MalaCards based summary:
Wrinkly Skin Syndrome, also known as wss, is related to cutis laxa, autosomal recessive, type iib and cutis laxa, autosomal recessive, type iia. An important gene associated with Wrinkly Skin Syndrome is ATP6V0A2 (ATPase H+ Transporting V0 Subunit A2), and among its related pathways/superpathways is Glutamate and glutamine metabolism. Affiliated tissues include skin, bone and cortex, and related phenotypes are excessive skin wrinkling on dorsum of hands and fingers and failure to thrive
Orphanet:
58
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).
Disease Ontology:
11
A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has material basis in homozygous or compound heterozygous mutation in ATP6V0A2 on chromosome 12q24.31.
UniProtKB/Swiss-Prot:
73
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.
Wikipedia:
75
Wrinkly skin syndrome (WSS) is a rare genetic condition characterized by sagging, wrinkled skin, low... more...
Rare neurological diseases 
