Synonym(s): - WSS - Wrinkled skin syndrome
Classification (Orphanet): - Inborn errors of metabolism - Rare abdominal surgical disease - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease - Rare surgical thoracic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See 1 MeSH reference: C536750
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
ATP6V0A2	Q9Y487	611716

- Autosomal recessive inheritance
- Deep palmar creases
- Loose skin / skin relaxation / excess skin / creases
- Tight skin / lack of elasticity

- Abnormal fat distribution / lipodystrophy
- Alopecia
- Anomalies of bones / skeletal anomalies
- Brachycephaly / flat occiput
- Chronic skin infection / ulcerations / ulcers / cancrum
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Depressed premaxillary region / midface
- Dry / squaly skin / exfoliation
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hair and scalp anomalies
- Herniae
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hyperextensible joints / articular hyperlaxity
- Hypertelorism
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Kyphosis
- Microcephaly
- Multiple caries
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Premature ageing
- Tooth shape anomaly

- Atrial septal defect / interauricular communication
- Myopia
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Prominent occiput / occipital bossing
- Retinitis pigmentosa / retinal pigmentary changes
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures