ORPHA:3239
Deafness-vitiligo-achalasia syndrome
historical
Synonyms: Hearing loss-vitiligo-achalasia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare otorhinolaryngologic disease characterized by congenital deafness with profound sensorineural hearing loss, short stature, vitiligo, muscle wasting, and achalasia. There have been no further descriptions in the literature since 1971.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Deafness-vitiligo-achalasia syndrome | Hearing loss-vitiligo-achalasia syndrome |
| fr | Syndrome de surdité-vitiligo-achalasie | |
| de | Schwerhörigkeit-Vitiligo-Achalasie-Syndrom | |
| es | Síndrome de sordera-vitíligo-acalasia | Síndrome de hipoacusia-vitíligo-acalasia |
| it | Sordità - vitiligine - acalasia | |
| nl | Doofheid - vitiligo - achalasie-syndroom | Gehoorverlies - vitiligo - achalasie-syndroom |
| pt | Síndrome de surdez-vitiligo-acalasia | Síndrome de perda auditiva-vitiligo-acalasia |
| pl | Głuchota - bielactwo nabyte - achalazja | = en |
| cs | Syndrom zahrnující hluchotu, vitiligo a achalázii | = en |
| uk | Синдром глухоти-вітіліго-ахалазії | Синдром втрати слуху-вітіліго-ахалазії |
| zh | 耳聋-白癜风-失迟缓综合征 | 听力丧失-白癜风-贲门失弛缓综合征 |
| tr | Sağırlık-vitiligo-akalazi sendromu | İşitme kaybı-vitiligo-akalazya sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 221350 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0009085 | E | validated | |
| UMLS | C4518568 | E | validated | |
| GARD | 1705 | 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 (1):
- 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 |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 5100941[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5100941[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.
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HPO phenotypes
6 annotations · validated 2017-10-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002571 | Achalasia | |
| HP:0002353 | EEG abnormality | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0003510 | Severe short stature | |
| HP:0003202 | Skeletal muscle atrophy | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3239
- This record as JSON: /data/d/3239.json