ORPHA:3352
Tricho-dento-osseous syndrome
Synonyms: TDO syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tricho-dento-osseous syndrome | TDO syndrome |
| fr | Syndrome tricho-dento-osseux | |
| de | Tricho-dento-ossäres Syndrom | TDO-Syndrom |
| es | Síndrome trico-dento-óseo | |
| it | Sindrome trico-dento-ossea | Sindrome TDO |
| nl | Tricho-dento-ossaal syndroom | TDO-syndroom |
| pt | Síndrome trico-dento-ósseo | Síndrome TDO |
| pl | Zespół włosowo-zębowo-kostny | Zespół TDO |
| cs | Trichodentooseální syndrom | TDO syndrom |
| uk | Триходентокістковий синдром | TDO-синдром |
| zh | 毛发-牙齿-骨综合征 | TDO 综合征 |
| tr | Triko-dento-osseous sendromu | TDO sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 190320 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0008592 | E | validated | |
| MeSH | C536549 | E | validated | |
| UMLS | C0265333 | E | validated | |
| GARD | 7799 | 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 (5):
- 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:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:93444Primary bone dysplasia with increased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:79367Syndromic hair shaft abnormality
rare genetic diseases; rare skin diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DLX3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2916 | ENSG00000064195 | 600525 | 17q21.33 | distal-less homeobox 3 | 18492670[PMID]_22969805[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
16 annotations · validated 2019-03-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0011362 | Abnormal hair quantity | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0000264 | Abnormality of the mastoid | |
| HP:0009722 | Dental enamel pits | |
| HP:0000268 | Dolichocephaly | |
| HP:0006285 | Enamel hypomineralization | |
| HP:0001808 | Fragile nails | |
| HP:0002007 | Frontal bossing | |
| HP:0011001 | Increased bone mineral density | |
| HP:0000691 | Microdontia | |
| HP:0030312 | Obliteration of the calvarial diploe | |
| HP:0030758 | Periapical tooth abscess | |
| HP:0000679 | Taurodontia | |
| HP:0000687 | Widely spaced teeth | |
| Occasional (29-5%) | ||
| HP:0006485 | Agenesis of incisor | |
| HP:0040019 | Finger clinodactyly | |
Annotation source: 2387085[PMID]_5054226[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3352
- This record as JSON: /data/d/3352.json