Amelo-onycho-hypohidrotic syndrome
historical
Synonyms: Ameloonychohypohidrotic ectodermal dysplasia · Ameloonychohypohidrotic syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- No data available
- Status
- historical
A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal puncta may be occasionally absent. There have been no further descriptions in the literature since 1975.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Amelo-onycho-hypohidrotic syndrome | Ameloonychohypohidrotic ectodermal dysplasia · Ameloonychohypohidrotic syndrome |
| fr | Syndrome amélo-onycho-hypohidrotique | Dysplasie ectodermique améloonychohypohidrotique · Syndrome améloonychohypohidrotique |
| de | Amelo-onycho-hypohidrotisches Syndrom | Ektodermale Dysplasie, amelo-onycho-hypohidrotische |
| es | Síndrome amelo-ónico-hipohidrótico | Displasia ectodérmica amelo-ónico-hipohidrótica |
| it | Sindrome amelo-onico-ipoidrotica | |
| nl | Amelo-onycho-hypohidrotisch syndroom | Amelo-onychohypohidrotisch syndroom · Amelo-onychohypohidrotische ectodermale dysplasie |
| pt | Síndrome amelo-onico-hipohidrótico | |
| pl | Zespół kończynowo-paznokciowo-hipohydrotyczny | = en |
| cs | Ameloonychohypohidrotický syndrom | = en |
| uk | Амело-оніхо-гіпогідротичний синдром | Амелооніхогіпогідротична ектодермальна дисплазія · Амелооніхогіпогідротичний синдром |
| zh | 甲成釉质不良-少汗综合征 | 甲成釉质不良-少汗外胚层发育不良 |
| tr | Amelo-oniko-hipohidrotik sendrom | Ameliaonikohipohidrotik sendrom · Ameliaonikohipohidrotik ektodermal displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 104570 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007095 | E | validated | |
| MeSH | C538245 | E | validated | |
| UMLS | C1863006 | E | validated | |
| GARD | 647 | 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 | 2 cases | Worldwide | Case(s) | Validated | 122795[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_122795[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:0001231 | Abnormal fingernail morphology | |
| HP:0011073 | Abnormality of dental color | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000966 | Hypohidrosis | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0001806 | Onycholysis | |
| HP:0006286 | Yellow-brown discoloration of the teeth | |
| Frequent (79-30%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0006288 | Advanced eruption of teeth | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000958 | Dry skin | |
| HP:0002213 | Fine hair | |
| HP:0009804 | Tooth agenesis | |
| Occasional (29-5%) | ||
| HP:0000232 | Everted lower lip vermilion | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1028
- This record as JSON: /data/d/1028.json