Thakker-Donnai syndrome
historical
Synonyms: Dysmorphism-multiple structural anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- historical
A rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short esophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thakker-Donnai syndrome | Dysmorphism-multiple structural anomalies syndrome |
| fr | Syndrome de Thakker-Donnai | |
| de | Thakker-Donnai-Syndrom | Dysmorphien-multiple strukturelle Anomalien-Syndrom |
| es | Síndrome de Thakker-Donnai | Síndrome de dismorfia-anomalías estructurales múltiples |
| it | Sindrome di Thakker-Donnai | Sindrome di Thakker-Donnai |
| nl | Syndroom van Thakker-Donnai | Dysmorfie - meervoudige structurele anomalieën-syndroom |
| pt | Síndrome Thakker-Donnai | Dismorfias-anomalias múltiplas estruturais |
| pl | Dysmorfizm- wielorakie wady strukturalne | Zespół Thakkera i Donnai |
| cs | Thakkerův-Donnaiové syndrom | Syndrom zahrnující dysmorfismus a mnohočetné strukturální anomálie · Thakker-Donnaiové syndrom |
| uk | Синдром Таккера-Доннаї | Синдром дисморфізму та множинних структурних аномалій |
| zh | Thakker-Donnai综合征 | 畸形-多发性结构畸形综合征 |
| tr | Thakker-Donnai sendromu | Dismorfizm-çoklu yapısal anomaliler sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 227255 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009202 | E | validated | |
| MeSH | C536503 | E | validated | |
| UMLS | C2931219 | E | validated | |
| GARD | 5158 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:471383Genetic lethal multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases - ORPHA:459787Lethal multiple congenital anomalies/dysmorphic syndrome
rare developmental anomalies during embryogenesis
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 1956065[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1956065[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.
HPO phenotypes
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0000414 | Bulbous nose | |
| HP:0004602 | Cervical C2/C3 vertebral fusion | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002937 | Hemivertebrae | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0000637 | Long palpebral fissure | |
| HP:0000160 | Narrow mouth | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000470 | Short neck | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000465 | Webbed neck | |
| Frequent (79-30%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002023 | Anal atresia | |
| HP:0001334 | Communicating hydrocephalus | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000126 | Hydronephrosis | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000400 | Macrotia | |
| HP:0000143 | Rectovaginal fistula | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0002575 | Tracheoesophageal fistula | |
| HP:0001669 | Transposition of the great arteries | |
| HP:0001629 | Ventricular septal defect | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1780
- This record as JSON: /data/d/1780.json