Trichodysplasia-xeroderma syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trichodysplasia-xeroderma syndrome | |
| fr | Syndrome de trichodysplasie-xérodermie | |
| de | Trichodysplasie-Xerodermie-Syndrom | |
| es | Síndrome de tricodisplasia-xerodermia | |
| it | Sindrome tricodisplasia - xeroderma | |
| nl | Trichodysplasie - xerodermie-syndroom | |
| pt | Síndrome de tricodisplasia-xerodermia | |
| pl | Trichodysplazja - kseroderma | |
| cs | Syndrom zahrnující trichodysplázii a xerodermii | |
| uk | Синдром триходисплазії-ксеродермії | |
| zh | 毛发发育不良-干皮病综合征 | |
| tr | Trikodisplazi-kseroderma sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 190360 | E | validated | |
| ICD-10 | L67.8 | NTBT | attributed | validated |
| ICD-11 | EC21.0 | NTBT | attributed | validated |
| MONDO | 0008598 | E | validated | |
| UMLS | C4707844 | E | validated | |
| GARD | 5261 | 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 (1):
- 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 | 1 families | Worldwide | Family(ies) | Validated | 3608221[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3608221[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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002299 | Brittle hair | |
| HP:0002208 | Coarse hair | |
| HP:0000958 | Dry skin | |
| HP:0003777 | Pili torti | |
| HP:0045075 | Sparse eyebrow | |
| HP:0002209 | Sparse scalp hair | |
| HP:0002552 | Trichodysplasia | |
| HP:0009886 | Trichorrhexis nodosa | |
| Frequent (79-30%) | ||
| HP:0001596 | Alopecia | |
| HP:0002231 | Sparse body hair | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3361
- This record as JSON: /data/d/3361.json