ORPHA:79107
Developmental malformations-deafness-dystonia syndrome
Synonyms: Developmental malformations-hearing loss-dystonia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Infancy
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of sensorineural hearing loss and a delayed-onset (usually generalized, but may be partial) dystonia syndrome.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Developmental malformations-deafness-dystonia syndrome | Developmental malformations-hearing loss-dystonia syndrome |
| fr | Syndrome d'anomalies du développement-surdité-dystonie | |
| de | Entwicklungsdefekte-Schwerhörigkeit-Dystonie-Syndrom | |
| es | Síndrome de malformaciones del desarrollo-sordera-distonía | Síndrome de malformaciones del desarrollo-hipoacusia-distonía |
| it | Anomalie dello sviluppo - sordità - distonia | |
| nl | Ontwikkelingsdefecten - doofheid - dystonie-syndroom | Ontwikkelingsdefecten - gehoorverlies - dystonie-syndroom |
| pt | Malformações - surdez - distonia | |
| pl | Malformacje rozwojowe - głuchota - dystonia | = en |
| cs | Syndrom zahrnující vývojové malformace, hluchotu a dystonii | DJO · Dystonie s nástupem v dětství |
| uk | Синдром вад розвитку-глухоти-дистонії | Синдром вад розвитку - втрати слуху - дистонії |
| zh | 发育畸形-耳聋-肌张力障碍综合征 | 发育畸形-听力丧失-肌张力障碍综合征 |
| tr | Gelişimsel malformasyonlar-sağırlık-distoni sendromu | Gelişimsel malformasyonlar-işitme kaybı-distoni sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607371 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0011823 | E | validated | |
| UMLS | C4303590 | E | validated | |
| GARD | 9818 | 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 (6):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:370106Rare disorder with dystonia and other neurologic or systemic manifestation
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACTB | Disease-causing germline mutation(s) in | Assessed | HGNC:132 | ENSG00000075624 | 102630 | 7p22.1 | actin beta | 16685646[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 12325076[PMID]_[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12325076[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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002571 | Achalasia | |
| HP:0100613 | Death in early adulthood | |
| HP:0002015 | Dysphagia | |
| HP:0008796 | Externally rotated hips | |
| HP:0007325 | Generalized dystonia | |
| HP:0001263 | Global developmental delay | |
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0000882 | Hypoplastic scapulae | |
| HP:0002721 | Immunodeficiency | |
| HP:0001249 | Intellectual disability | |
| HP:0002808 | Kyphosis | |
| HP:0000158 | Macroglossia | |
| HP:0001268 | Mental deterioration | |
| HP:0002983 | Micromelia | |
| HP:0000202 | Orofacial cleft | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000618 | Blindness | |
| HP:0000518 | Cataract | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 12325076[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79107
- This record as JSON: /data/d/79107.json