wrinkly skin syndrome
Findings
No curated finding names wrinkly skin syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A type of cutis laxa that 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).
Definition from the Mondo Disease Ontology (MONDO:0010208), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
66 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Blue scleraeHPOHP:0000592
- 1 of 1 reported patient
- Congenital hip dislocationHPOHP:0001374
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Delayed closure of the anterior fontanelleHPOHP:0001476
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Excessive skin wrinkling on dorsum of hands and fingersHPOHP:0007407
- Obligate (100% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ATP6V0A2HGNC:18481
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: wrinkly skin syndrome
- Also called
- wrinkled skin syndromeWSS