Pilodental dysplasia-refractive errors syndrome
historical
Synonyms: Euhidrotic ectodermal dysplasia · Kopysc-Barczyk-Krol syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pilodental dysplasia-refractive errors syndrome | Euhidrotic ectodermal dysplasia · Kopysc-Barczyk-Krol syndrome |
| fr | Dysplasie pilo-dentaire | Dysplasie ectodermique euhidrotique · Syndrome de Kopysc-Barczyk-Krol |
| de | Dysplasie, pilo-dentale - Refraktionsanomalien | Dysplasie, ektodermale euhidrotische |
| es | Síndrome de displasia pilodental-errores refractivos | Síndrome de Kopysc-Barczyk-Krol |
| it | Sindrome da displasia pilodentale ed errori refrattivi | Displasia ectodermica euidrotica · Sindrome di Kopysc-Barczyk-Krol |
| nl | Pilodentale dysplasie - refractiefouten-syndroom | Euhidrotische ectodermale dysplasie · Syndroom van Kopysc-Barczyk-Krol |
| pt | Síndrome de displasia pilo-dentária-erros refrativos | Displasia ectodérmica eu-hidrótica · Síndrome Kopysc-Barczyk-Krol |
| pl | Dyspazja włosowo-zębowa - zaburzenia refrakcji | Dysplazja ektodermalna euhydryczna · Zespół Kopyścia, Barczyka i Król |
| cs | Syndrom zahrnující pilodentální dysplázii a refrakční vady | Euhidrotická ektodermální dysplázie · Kopyscův-Barczykův-Krolův syndrom · Kopysc-Barczyk-Krolův syndrom |
| uk | Синдром дисплазії опорно-рухового апарату з аномаліями рефракції | Еугідротична ектодермальна дисплазія · Синдром Копиця-Барчика-Кроля |
| zh | 毛发牙齿发育不良-屈光不正综合征 | 嗜汗性外胚叶发育不良 |
| tr | Pilodental displazi-gözün kırma hataları sendromu | Kopysc-Barczyk-Krol sendromu · Öhidrotik ektodermal displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 262020 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009873 | E | validated | |
| MeSH | C535763 | E | validated | |
| UMLS | C1849805 | E | validated | |
| GARD | 277 | 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 (3):
- 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
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 | 2 cases | Worldwide | Case(s) | Validated | 4018802[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4018802[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/2892
- This record as JSON: /data/d/2892.json