Trichodental syndrome
Synonyms: Kersey syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare ectodermal dysplasia syndrome characterized by the association of sparse, fine, dry, slow growing hair with variable dental abnormalities including oligodontia, peg-shaped incisors, and shell teeth. Mild intellectual disability, microcephaly, and dysmorphic facial features have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trichodental syndrome | Kersey syndrome |
| fr | Syndrome tricho-dentaire | Syndrome de Kersey |
| de | Trichodentales Syndrom | Kersey-Syndrom · Trichodentale Dysplasie |
| es | Síndrome trico-dental | Síndrome de Kersey |
| it | Sindrome tricodentale | Sindrome di Kersey |
| nl | Trichodentaal syndroom | Syndroom van Kersey |
| pt | Síndrome trico-dentária | Síndrome Kersey |
| pl | Zespół włosowo-zębowy | Zespół Kersey'a |
| cs | Trichodentální syndrom | Kerseyův syndrom |
| uk | Триходентальний синдром | Синдром Керсі |
| zh | 毛母细胞瘤 | Kersey 综合征 |
| tr | Trikodental sendrom | Kersey sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601453 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0011083 | E | validated | |
| MeSH | C536551 | E | validated | |
| UMLS | C0406724 | E | validated | |
| GARD | 265 | 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 (4):
- 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:79367Syndromic hair shaft abnormality
rare genetic diseases; rare skin diseases
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 | 5 families | Worldwide | Family(ies) | Validated | 8574424[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8574424[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3351
- This record as JSON: /data/d/3351.json