Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome | |
| fr | Syndrome de dysplasie ectodermique-pili torti-syndactylie cutanée | |
| de | Ektodermale Dysplasie-Pili-Torti-Syndaktylie-Syndrom | EDSS1 |
| es | Síndrome de displasia ectodérmica-sindactilia | EDSS · EDSS1 |
| it | Sindrome displasia ectodermica-pili torti-sindattilia cutanea | |
| nl | Ectodermale dysplasie - pili torti - cutane syndactylie-syndroom | |
| pt | Síndrome de displasia ectodérmica-pili torti-sindactilia cutânea | |
| pl | Zespół dysplazja ektodermalna - syndaktylia | EDSS · EDSS1 · Zespół dysplazji ektodermalnej - pili torti - syndaktylii skórnej |
| cs | Syndrom zahrnující ektodermální dysplázii a syndaktylii | EDSS · ESSS1 |
| uk | Синдром ектодермальної дисплазії-pili torti-шкірної синдактилії | |
| zh | 外胚层发育不良伴并指综合症 | EDSS1 |
| tr | Ektodermal displazi-sindaktili sendrom | EDSS · EDSS1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613573 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| UMLS | C4749852 | 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:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NECTIN4 | Disease-causing germline mutation(s) in | Assessed | HGNC:19688 | ENSG00000143217 | 609607 | 1q23.3 | nectin cell adhesion molecule 4 | 20691405[PMID]_21346770[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 25529316[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25529316[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/247820
- This record as JSON: /data/d/247820.json