ORPHA:1883
Ectodermal dysplasia-sensorineural deafness syndrome
historical
Synonyms: Ectodermal dysplasia-sensorineural hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- historical
A rare ectodermal dysplasia syndrome characterized by hidrotic ectodermal dysplasia, sensorineural hearing loss, and contracture of the fifth fingers. Thoracic scoliosis can also be present. There have been no further descriptions in the literature since 1970.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ectodermal dysplasia-sensorineural deafness syndrome | Ectodermal dysplasia-sensorineural hearing loss syndrome |
| fr | Syndrome de dysplasie ectodermique-surdité neurosensorielle | |
| de | Ektodermale Dysplasie-sensorineurale Schwerhörigkeit-Syndrom | Ektodermale Dysplasie-sensorineuraler Hörverlust-Syndrom |
| es | Síndrome de displasia ectodérmica-sordera neurosensorial | Síndrome de displasia ectodérmica-hipoacusia neurosensorial |
| it | Sindrome displasia ectodermica-sordità neurosensoriale | |
| nl | Ectodermale dysplasie - sensorineurale doofheid-syndroom | Ectodermale dysplasie - sensorineuraal gehoorverlies-syndroom |
| pt | Síndrome de displasia ectodérmica-surdez neurossensorial | |
| pl | Zespół dysplazji ektodermalnej i głuchoty czuciowo-nerwowej | = en |
| cs | Syndrom zahrnující ektodermální dysplázii a senzorineurální hluchotu | = en |
| uk | Синдром ектодермальної дисплазії- сенсоневральної приглухуватості | Синдром ектодермальної дисплазії - сенсоневральної приглухуватості |
| zh | 外胚层发育不良-感音神经性耳聋综合征 | 外胚层发育不良-感音神经性耳聋综合征 |
| tr | Ektodermal displazi-sensorinöral sağırlık sendromu | Ektodermal displazi-sensörinöral işitme kaybı sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 224800 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009146 | E | validated | |
| UMLS | C4518541 | E | validated | |
| GARD | 9723 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5422345[PMID] |
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 5422345[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.
6
HPO phenotypes
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0007529 | Hidrotic ectodermal dysplasia | |
| HP:0009183 | Joint contracture of the 5th finger | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0008070 | Sparse hair | |
| Frequent (79-30%) | ||
| HP:0001166 | Arachnodactyly | |
| HP:0002299 | Brittle hair | |
| HP:0000670 | Carious teeth | |
| HP:0002208 | Coarse hair | |
| HP:0100543 | Cognitive impairment | |
| HP:0000962 | Hyperkeratosis | |
| HP:0002808 | Kyphosis | |
| HP:0002650 | Scoliosis | |
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1883
- This record as JSON: /data/d/1883.json