ORPHA:2891
Pili torti-developmental delay-neurological abnormalities syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy
- Status
- active
Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pili torti-developmental delay-neurological abnormalities syndrome | |
| fr | Syndrome de pili torti-retard de développement-anomalies neurologiques | |
| de | Pili torti-Entwicklungsverzögerung-neurologische Anomalien-Syndrom | |
| es | Síndrome de pili torti-retraso del desarrollo-anomalías neurológicas | |
| it | Pili torti - ritardo dello sviluppo - anomalie neurologiche | |
| nl | Pili torti - ontwikkelingsachterstand - neurologische anomalieën-syndroom | |
| pt | Pili torti-atraso do desenvolvimento-anomalias neurológicas | |
| pl | Włosy skręcone - opóźnienie w rozwoju - nieprawidłowości neurologiczne | |
| cs | Syndrom zahrnující pili torti, opoždění vývoje a neurologické abnormality | |
| uk | Синдром перекрученого волосся-затримки розвитку-неврологічних порушень | |
| zh | 卷发-发育迟缓-神经系统异常综合征 | |
| tr | Pili torti-gelişme geriliği-nörolojik anormallikler sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 261990 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | EC21.0 | NTBT | attributed | validated |
| MONDO | 0009871 | E | validated | |
| MeSH | C537398 | E | validated | |
| UMLS | C4274783 | E | validated | |
| GARD | 4362 | 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 (1):
- ORPHA:79367Syndromic hair shaft abnormality
rare genetic diseases; rare skin diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 1379303[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1379303[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.
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HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010719 | Abnormality of hair texture | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0001251 | Ataxia | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0001382 | Joint hypermobility | |
| HP:0003777 | Pili torti | |
| HP:0200102 | Sparse or absent eyelashes | |
| Frequent (79-30%) | ||
| HP:0001288 | Gait disturbance | |
| HP:0001252 | Hypotonia | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2891
- This record as JSON: /data/d/2891.json