Wrinkly skin syndrome
Synonyms: WSS · Wrinkled skin syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
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).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Wrinkly skin syndrome | WSS · Wrinkled skin syndrome |
| fr | Syndrome de la peau ridée | WSS |
| de | Wrinkly-Skin-Syndrom | WSS |
| es | Síndrome de la piel arrugada | WSS |
| it | Sindrome della cute rugosa | WSS |
| nl | Rimpelige huid-syndroom | 'Wrinkly skin'-syndroom · Gerimpelde huid-syndroom · WSS |
| pt | Síndrome da pele enrugada | |
| pl | Zespół pomarszczonej skóry | WSS · Zespół skóry ze zmarszczkami |
| cs | Syndrom vrásčité kůže | WSS |
| uk | Синдром зморшкуватої шкіри | Синдром зморшкуватої шкіри · WSS |
| zh | 皱皮综合症 | 皱皮综合征 |
| tr | Kırışık cilt sendromu | WSS · Kırışık cilt sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 278250 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD2B | NTBT | index | validated |
| MONDO | 0010208 | E | validated | |
| MeSH | C536750 | E | validated | |
| UMLS | C0406587 | E | validated | |
| GARD | 273 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:357058Autosomal recessive cutis laxa type 2A
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare abdominal surgical diseases; rare surgical thoracic diseases; rare skin diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP6V0A2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18481 | ENSG00000185344 | 611716 | 12q24.31 | ATPase H+ transporting V0 subunit a2 | 18157129[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
61 annotations · validated 2017-09-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0007407 | Excessive skin wrinkling on dorsum of hands and fingers | |
| Very frequent (99-80%) | ||
| HP:0003160 | Abnormal isoelectric focusing of serum transferrin | |
| HP:0004426 | Abnormality of the cheek | |
| HP:0000455 | Broad nasal tip | |
| HP:0000670 | Carious teeth | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0002812 | Coxa vara | |
| HP:0000028 | Cryptorchidism | |
| HP:0000973 | Cutis laxa | |
| HP:0003199 | Decreased muscle mass | |
| HP:0006191 | Deep palmar crease | |
| HP:0001869 | Deep plantar creases | |
| HP:0001476 | Delayed closure of the anterior fontanelle | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0007392 | Excessive wrinkled skin | |
| HP:0001508 | Failure to thrive | |
| HP:0008947 | Floppy infant | |
| HP:0025167 | Fragmented elastic fibers in the dermis | |
| HP:0002761 | Generalized joint hypermobility | |
| HP:0001263 | Global developmental delay | |
| HP:0011003 | High myopia | |
| HP:0010838 | High nonceruloplasmin-bound serum copper | |
| HP:0000218 | High palate | |
| HP:0001611 | Hypernasal speech | |
| HP:0000316 | Hypertelorism | |
| HP:0000023 | Inguinal hernia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0009125 | Lipodystrophy | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0006114 | Multiple palmar creases | |
| HP:0008113 | Multiple plantar creases | |
| HP:0000938 | Osteopenia | |
| HP:0000767 | Pectus excavatum | |
| HP:0001763 | Pes planus | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0001788 | Premature rupture of membranes | |
| HP:0000253 | Progressive microcephaly | |
| HP:0005272 | Prominent nasolabial fold | |
| HP:0007457 | Prominent veins on trunk | |
| HP:0005425 | Recurrent sinopulmonary infections | |
| HP:0004322 | Short stature | |
| HP:0004993 | Slender long bones with narrow diaphyses | |
| HP:0200141 | Small, conical teeth | |
| HP:0000319 | Smooth philtrum | |
| HP:0008070 | Sparse hair | |
| HP:0006891 | Thick cerebral cortex | |
| HP:0001537 | Umbilical hernia | |
| HP:0002645 | Wormian bones | |
| Frequent (79-30%) | ||
| HP:0011995 | Atrial septal dilatation | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0002073 | Progressive cerebellar ataxia | |
| HP:0001350 | Slurred speech | |
| HP:0002133 | Status epilepticus | |
| Occasional (29-5%) | ||
| HP:0010989 | Abnormality of the intrinsic pathway | |
| Excluded (0%) | ||
| HP:0002097 | Emphysema | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 19401719[PMID]_16780467[PMID]_9916839[PMID]_11424136[PMID]_3321993[PMID]_9916839[PMID]_8500259[PMID]_3321993[PMID]_4765201[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2834
- This record as JSON: /data/d/2834.json