Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
historical
Synonyms: ANOTHER syndrome · HEDH syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- historical
A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome | ANOTHER syndrome · HEDH syndrome |
| fr | Syndrome de dysplasie ectodermique-hypohidrose-hypothyroïdie-dyskinésie ciliaire | Syndrome ANOTHER · syndrome HEDH |
| de | Hypohidrotische ektodermale Dysplasie-Hypothyreose-Ziliendyskinesie-Syndrom | ANOTHER-Syndrom · Dysplasie, ektodermale hypohidrotische - Hypothyreose - Ziliendyskinesie · HEDH-Syndrom |
| es | Síndrome de displasia ectodérmica hipohidrótica-hipotiroidismo-discinesia ciliar | Síndrome ANOTHER · Síndrome HEDH |
| it | Sindrome da displasia ectodermica ipoidrotica, ipotiroidismo e discinesia ciliare | Sindrome ANOTHER |
| nl | Hypohidrotische ectodermale dysplasie - hypothyreoïdie - ciliaire dyskinesie-syndroom | ANOTHER-syndroom · HEDH-syndroom |
| pt | Síndrome de displasia ectodérmica hipohidrótica-hipotiroidismo-discinesia ciliar | Síndrome ANOTHER · Síndrome HEDH |
| pl | Zespół hipohydrotycznej dysplazji ektodermalnej, niedoczynności tarczycy i dyskinezji rzęsek | Zespół HEDH · Zespół ANOTHER |
| cs | Syndrom zahrnující hypohidrotickou ektodermální dysplázii, hypotyreózu a ciliární dyskinezi | ANOTHER syndrom |
| uk | Гіпогідротична ектодермальна дисплазія-гіпотиреоз-циліарна дискінезія | Синдром ANOTHER · Синдром HEDH |
| zh | 少汗性外胚层发育不良-甲状腺功能减退-纤毛运动异常综合征 | ANOTHER综合征 |
| tr | Hipohidrotik ektodermal displazi-hipotiroidi-siliyer diskinezi sendromu | HEDH sendromu · ANOTHER sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 225050 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.02 | NTBT | index | validated |
| MONDO | 0009150 | E | validated | |
| MeSH | C565604 | E | validated | |
| UMLS | C1857052 | E | validated | |
| GARD | 2049 | 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 (2):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:177107Syndromic hypothyroidism
rare genetic diseases; rare endocrine 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 | 3 cases | Worldwide | Case(s) | Validated | 7463217[PMID]_3944674[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7463217[PMID]_3944674[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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001596 | Alopecia | |
| HP:0000708 | Atypical behavior | |
| HP:0012265 | Ciliary dyskinesia | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0008391 | Dystrophic fingernails | |
| HP:0001810 | Dystrophic toenail | |
| HP:0002213 | Fine hair | |
| HP:0000966 | Hypohidrosis | |
| HP:0000821 | Hypothyroidism | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0004322 | Short stature | |
| HP:0045075 | Sparse eyebrow | |
| HP:0002209 | Sparse scalp hair | |
| Frequent (79-30%) | ||
| HP:0000632 | Lacrimation abnormality | |
| HP:0000995 | Melanocytic nevus | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1882
- This record as JSON: /data/d/1882.json