Pili torti-onychodysplasia syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pili torti-onychodysplasia syndrome | |
| fr | Syndrome de pili torti-onychodysplasie | |
| de | Pili torti-Onychodysplasie-Syndrom | Syndrom der Pili torti mit Onychodystrophie |
| es | Síndrome de pili torti-onicodisplasia | |
| it | Sindrome da pili torti e onicodisplasia | |
| nl | Pili torti - onychodysplasie-syndroom | |
| pt | Síndrome de pili torti-onicodisplasia | |
| pl | Włosy skręcone - dysplazja paznokci | |
| cs | Syndrom zahrnující pili torti a onychodysplázii | |
| uk | Синдром перекрученого волосся-оніходисплазії | |
| zh | 卷发-甲发育不良综合征 | |
| tr | Pili torti-onikodisplazi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0017321 | E | validated | |
| MeSH | C537399 | E | validated | |
| UMLS | C4509919 | E | validated | |
| GARD | 4364 | 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:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; 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 | 1879585[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1879585[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
20 annotations · validated 2017-11-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000968 | Ectodermal dysplasia | |
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0002223 | Absent eyebrow | |
| HP:0000561 | Absent eyelashes | |
| HP:0001596 | Alopecia | |
| HP:0002289 | Alopecia universalis | |
| HP:0002299 | Brittle hair | |
| HP:0410030 | Cleft lip | |
| HP:0000175 | Cleft palate | |
| HP:0008394 | Congenital onychodystrophy | |
| HP:0030953 | Conjunctival hyperemia | |
| HP:0012725 | Cutaneous syndactyly | |
| HP:0000958 | Dry skin | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0007439 | Generalized keratosis follicularis | |
| HP:0010562 | Keloids | |
| HP:0008404 | Nail dystrophy | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0002552 | Trichodysplasia | |
| Occasional (29-5%) | ||
| HP:0002231 | Sparse body hair | |
Annotation source: 1879585[PMID]_1479096[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2890
- This record as JSON: /data/d/2890.json