Hidrotic ectodermal dysplasia, Halal type
Synonyms: Halal-Setton-Wang syndrome · Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hidrotic ectodermal dysplasia, Halal type | Halal-Setton-Wang syndrome · Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome |
| fr | Dysplasie ectodermique hidrotique type Halal | Syndrome de Halal-Setton-Wang |
| de | Dysplasie, ektodermale hidrotische, Typ Halal | Halal-Setton-Wang-Syndrom · Trichodysplasie-abnorme Dermatoglyphen-Intelligenzminderung-Syndrom |
| es | Displasia ectodérmica hidrótica tipo Halal | Síndrome de Halal-Setton-Wang · Síndrome de tricodisplasia-dermatoglifos anómalos-discapacidad intelectual |
| it | Displasia ectodermica idrotica, tipo Halal | Sindrome tricodisplasia-anomalie dei dermatoglifi-disabilità intellettiva · Sindrome di Halal-Setton-Wang |
| nl | Hidrotische ectodermale dysplasie, Halal-type | Syndroom van Halal-Setton-Wang · Trichodysplasie - abnormale dermatoglyfen - intellectuele achterstand-syndroom |
| pt | Displasia ectodérmica hidrótica, tipo Halal | Síndrome Halal-Setton-Wang · Síndrome de tricodisplasia-dermatoglifia anómala-perturbação do desenvolvimento intelectual |
| pl | Hydrotyczna dysplazja ektodermalna typu Halal | Zespół Halal, Setton i Wanga |
| cs | Hidrotická ektodermální dysplázie, Halalův typ | Ektodermální dysplázie s anomáliemi kůže a mentální retardací · Halalův-Settonův-Wangův syndrom · Halal-Setton-Wangův syndrom |
| uk | Гідротична ектодермальна дисплазія, тип Халяль | Синдром Халал-Сеттон-Ванга · Синдром триходисплазії - аномальної дерматогліфіки - інтелектуальної недостатності |
| zh | 有汗型外胚层发育不良，Halal型 | 毛发发育不全-皮纹异常-智力障碍综合征 |
| tr | Hidrotik ektodermal displazi, Helal tip | Helal-Setton-Wang sendromu · Trikodisplazi-anormal dermatoglifikler-zihinsel yetersizlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0015883 | E | validated | |
| MeSH | C535621 | E | validated | |
| UMLS | C2930953 | E | validated | |
| GARD | 280 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological 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 | 4 cases | Worldwide | Case(s) | Validated | 2063897[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0000078 | Abnormality of the genital system | |
| HP:0002223 | Absent eyebrow | |
| HP:0000561 | Absent eyelashes | |
| HP:0001249 | Intellectual disability | |
| HP:0002164 | Nail dysplasia | |
| HP:0000411 | Protruding ear | |
| HP:0000278 | Retrognathia | |
| HP:0002231 | Sparse body hair | |
| HP:0002209 | Sparse scalp hair | |
| HP:0002552 | Trichodysplasia | |
| Frequent (79-30%) | ||
| HP:0007502 | Follicular hyperkeratosis | |
| HP:0000858 | Irregular menstruation | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0002558 | Supernumerary nipple | |
| Occasional (29-5%) | ||
| HP:0000365 | Hearing impairment | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1809
- This record as JSON: /data/d/1809.json