ORPHA:896
Waardenburg syndrome type 3
Synonyms: Klein-Waardenburg syndrome · WS3 · Waardenburg syndrome type III · Waardenburg syndrome with limb anomalies
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A very rare subtype of Waardenburg syndrome (WS) that is characterized by limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Waardenburg syndrome type 3 | Klein-Waardenburg syndrome · WS3 · Waardenburg syndrome type III · Waardenburg syndrome with limb anomalies |
| fr | Syndrome de Waardenburg type 3 | Syndrome de Klein-Waardenburg · Syndrome de Waardenburg avec anomalies des membres · Syndrome de Waardenburg type III · WS3 |
| de | Waardenburg-Syndrom Typ 3 | Klein-Waardenburg-Syndrom · WS3 · Waardenburg-Syndrom Typ III · Waardenburg-Syndrom mit Extremitätenanomalien |
| es | Síndrome de Waardenburg tipo 3 | Síndrome de Klein-Waardenburg · Síndrome de Waardenburg con anomalías de las extremidades · Síndrome de Waardenburg tipo III · WS3 |
| it | Sindrome di Waardenburg, tipo 3 | Sindrome di Klein-Waardenburg · Sindrome di Waardenburg con difetti degli arti · WS3 |
| nl | Syndroom van Waardenburg type 3 | Klein-Waardenburgsyndroom · Syndroom van Waardenburg met ledemaatanomalieën · Syndroom van Waardenburg type III · WS3 |
| pt | Síndrome Waardenburg tipo 3 | Síndrome Klein-Waardenburg |
| pl | Zespół Waardenburga typu 3 | WS3 · Zespół Klein i Waardenburga · Zespół Waardenburga typu III · Zespół Waardenburga z wadami kończyn |
| cs | Waardenburgův syndrom, typ 3 | WS3 · Kleinův-Waardenburgův syndrom · Waardenburgův syndrom s anomáliemi končetin · Klein-Waardenburgův syndrom |
| uk | Синдром Ваарденбурга, тип 3 | Синдром Кляйна-Варденбурга · Синдром Ваарденбурга, тип III · Синдром Ваарденбурга з аномаліями кінцівок · WS3 |
| zh | Waardenburg综合征3型 | Waardenburg综合征伴肢体畸形 |
| tr | Waardenburg sendromu tip 3 | WS3 · Klein-Waardenburg sendromu · Waardenburg sendromu tip III · ekstremite anomalileri olan Waardenburg sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 148820 | E | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EC23.2Y | NTBT | index | validated |
| MONDO | 0007862 | E | validated | |
| UMLS | C0079661 | E | validated | |
| GARD | 5523 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98575Syndromic telecanthus
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:3440Waardenburg syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare otorhinolaryngological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PAX3 | Disease-causing germline mutation(s) in | Assessed | HGNC:8617 | ENSG00000135903 | 606597 | 2q36.1 | paired box 3 | 8447316[PMID]_7726174[PMID]_12949970[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_Dr Véronique PINGAULT[EXPERT] |
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
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001167 | Abnormality of finger | |
| HP:0000271 | Abnormality of the face | |
| HP:0002817 | Abnormality of the upper limb | |
| HP:0000581 | Blepharophimosis | |
| HP:0010554 | Cutaneous finger syndactyly | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000365 | Hearing impairment | |
| HP:0001387 | Joint stiffness | |
| HP:0000252 | Microcephaly | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0000574 | Thick eyebrow | |
| Frequent (79-30%) | ||
| HP:0100750 | Atelectasis | |
| HP:0000506 | Telecanthus | |
| HP:0011364 | White hair | |
| Occasional (29-5%) | ||
| HP:0001063 | Acrocyanosis | |
| HP:0001631 | Atrial septal defect | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001249 | Intellectual disability | |
| HP:0001258 | Spastic paraplegia | |
| HP:0002779 | Tracheomalacia | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/896
- This record as JSON: /data/d/896.json