Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome | |
| fr | Syndrome de dysplasie ectodermique-hyperhidrose-syndactylie cutanée | |
| de | Ektodermale Dysplasie-Hyperhidrose-kutane Syndaktylie-Syndrom | EDSS2 |
| es | Síndrome de displasia ectodérmica-sindactilia cutánea | EDCS · EDSS2 |
| it | Sindrome displasia ectodermica-iperidrosi-sindattilia cutanea | |
| nl | Ectodermale dysplasie - hyperhidrose - cutane syndactylie-syndroom | |
| pt | Síndrome de displasia ectodérmica-hiperhidrose-sindactilia cutânea | |
| pl | Zespół dysplazja ektodermalna - syndaktylia skórna | EDCS · EDSS2 · Zespół dysplazji ektodermalnej - nadmiernej potliwości - syndaktylii skórnej |
| cs | Syndrom zahrnující ektodermální dysplázii a kožní syndaktylie | EDCS · EDSS2 |
| uk | Синдром ектодермальної дисплазії-гіпергідрозу-шкірної синдактилії | |
| zh | 外胚层发育不良伴皮肤并指综合症 | EDSS2 |
| tr | Ektodermal displazi-kutanöz sindaktili sendrom | EDCS · EDSS2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613576 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| MONDO | 13313 | E | validated | |
| UMLS | C5816683 | 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
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 19221800[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19221800[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/247827
- This record as JSON: /data/d/247827.json