ORPHA:2710
Oculodentodigital dysplasia
Synonyms: Meyer-Schwickerath syndrome · Meyer-Schwickerath-Weyers syndrome · ODDD syndrome · ODOD syndrome · Oculo-dento-digital dysplasia · Oculodentodigital syndrome · Oculodentodigitalis dysplasia · Oculodentoosseous dysplasia · Osseous-oculo-dental dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital malformation syndrome characterized by craniofacial, ocular, dental, digital anomalies and neurologic symptoms.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Oculodentodigital dysplasia | Meyer-Schwickerath syndrome · Meyer-Schwickerath-Weyers syndrome · ODDD syndrome · ODOD syndrome · Oculo-dento-digital dysplasia · Oculodentodigital syndrome · Oculodentodigitalis dysplasia · Oculodentoosseous dysplasia · Osseous-oculo-dental dysplasia |
| fr | Dysplasie oculo-dento-digitale | DODD · Dysplasie oculo-dento-osseuse · Syndrome de Meyer-Schwickerath · Syndrome oculo-dento-digital |
| de | Dysplasie, okulo-dento-digitale | Dysplasie, okulo-dento-ossäre · Meyer-Schwickerath-Syndrom · Meyer-Schwickerath-Weyers-Syndrom · ODDD-Syndrom · ODOD-Syndrom |
| es | Displasia oculodentodigital | Displasia oculodentoósea · Displasia óculo-dento-digital · Displasia óseo-óculo-dental · Síndrome de Meyer-Schwickerath · Síndrome de Meyer-Schwickerath-Weyers · Síndrome óculo-dento-digital |
| it | Displasia oculo-dento-digitale | Displasia oculodentoossea · Sindrome ODDD · Displasia oculo-dento-ossea · Sindroe Meyer-Schwickerath · Sindrome Meyer-Schwickerath-Weyers · Sindrome ODOD · Displasia oculo-dento-digitale · Sindrome oculodentodigitale · Displasia oculodentodigitale |
| nl | Oculodentodigitale dysplasie | ODDD-syndroom · ODOD-syndroom · Oculodento-ossale dysplasie · Oculodentodigitaal syndroom · Syndroom van Meyer-Schwickerath · Syndroom van Meyer-Schwickerath-Weyers |
| pt | Displasia oculo-dento-digital | Displasia oculo-dento-óssea · Síndrome Meyer-Schwickerath · Síndrome ODDD |
| pl | Dysplazja oczno-zębowo-palcowa | Dysplazja oczno - zębowo-kostna · Zespół Meyera i Schwickeratha · Zespół ODDD |
| cs | Okulodentodigitální dysplázie | ODDD syndrom · Okulodentooseózní dysplázie · Meyer-Schwickerathův syndrom |
| uk | Окулодентодигітальна дисплазія | Синдром Мейєра-Швінкерата · Окуло-зубощелепна дисплазія · Синдром передозування |
| zh | 眼齿指发育不良 | 眼牙骨发育不良 |
| tr | Okülodentodijital displazi | ODDD sendromu · Meyer-Schwickerath sendromu · Okülodentoosseöz displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 164200 | E | validated | |
| OMIM | 257850 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0008111 | E | validated | |
| MeSH | C563160 | E | validated | |
| UMLS | C0812437 | E | validated | |
| GARD | 7239 | E | validated | |
| MedDRA | 10063691 | 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 (9):
- ORPHA:568047Disorder with multisystemic involvement and primary lymphedema
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare circulatory system diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93444Primary bone dysplasia with increased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GJA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4274 | ENSG00000152661 | 121014 | 6q22.31 | gap junction protein alpha 1 | 16378922[PMID]_24508941[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 243 cases | Worldwide | Case(s) | Validated | 12021949[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
83 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000598 | Abnormality of the ear | |
| HP:0000366 | Abnormality of the nose | |
| HP:0010761 | Broad columella | |
| HP:0000670 | Carious teeth | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0006101 | Finger syndactyly | |
| HP:0000482 | Microcornea | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0006323 | Premature loss of primary teeth | |
| HP:0001770 | Toe syndactyly | |
| HP:0009804 | Tooth agenesis | |
| HP:0000430 | Underdeveloped nasal alae | |
| Frequent (79-30%) | ||
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0000463 | Anteverted nares | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | |
| HP:0001251 | Ataxia | |
| HP:0000187 | Broad alveolar ridges | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000518 | Cataract | |
| HP:0002514 | Cerebral calcification | |
| HP:0030084 | Clinodactyly | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0004437 | Cranial hyperostosis | |
| HP:0002212 | Curly hair | |
| HP:0001260 | Dysarthria | |
| HP:0001288 | Gait disturbance | |
| HP:0000501 | Glaucoma | |
| HP:0000348 | High forehead | |
| HP:0008499 | High hypermetropia | |
| HP:0100774 | Hyperostosis | |
| HP:0001347 | Hyperreflexia | |
| HP:0000316 | Hypertelorism | |
| HP:0000601 | Hypotelorism | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000161 | Median cleft lip | |
| HP:0011342 | Mild global developmental delay | |
| HP:0001324 | Muscle weakness | |
| HP:0000545 | Myopia | |
| HP:0000011 | Neurogenic bladder | |
| HP:0000648 | Optic atrophy | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| HP:0002217 | Slow-growing hair | |
| HP:0008070 | Sparse hair | |
| HP:0002313 | Spastic paraparesis | |
| HP:0001257 | Spasticity | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000940 | Abnormal diaphysis morphology | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000525 | Abnormality iris morphology | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0011675 | Arrhythmia | |
| HP:0001156 | Brachydactyly | |
| HP:0002299 | Brittle hair | |
| HP:0000490 | Deeply set eye | |
| HP:0000286 | Epicanthus | |
| HP:0002213 | Fine hair | |
| HP:0001161 | Hand polydactyly | |
| HP:0000365 | Hearing impairment | |
| HP:0001943 | Hypoglycemia | |
| HP:0001249 | Intellectual disability | |
| HP:0003067 | Madelung deformity | |
| HP:0000347 | Micrognathia | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0000639 | Nystagmus | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0010109 | Short hallux | |
| HP:0000486 | Strabismus | |
| HP:0000679 | Taurodontia | |
| HP:0001537 | Umbilical hernia | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0001629 | Ventricular septal defect | |
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/2710
- This record as JSON: /data/d/2710.json