Dermotrichic syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
A rare, genetic, ectodermal dysplasia syndrome characterized by skin, hair and nail anomalies (i.e. generalized ichthyosis, congenital alopecia universalis, dystrophic, convex nails), associated with hypohidrosis without hyperthermia, intellectual disability, seizures, and skeletal (e.g. proportionate short stature, platyspondyly) and intestinal (e.g. congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing, blepharophimosis, large ears, low nasal bridge and small nose. There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dermotrichic syndrome | |
| fr | Syndrome dermotriche | |
| de | Dermotrichales Syndrom | |
| es | Síndrome tricodérmico | |
| it | Sindrome dermotrichica | |
| nl | Dermotrichaal syndroom | |
| pt | Síndrome dermotríquico | |
| pl | Zespół skórno-włosowy | |
| cs | Dermotrichický syndrom | |
| uk | Дермотрихіальний синдром | |
| zh | 皮肤毛发综合征 | |
| tr | Dermotrik sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| MONDO | 0020475 | E | validated | |
| UMLS | C0795919 | 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_14708109[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
17 annotations · validated 2016-10-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0000581 | Blepharophimosis | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002353 | EEG abnormality | |
| HP:0002007 | Frontal bossing | |
| HP:0030055 | Hyperconvex toenail | |
| HP:0000966 | Hypohidrosis | |
| HP:0008064 | Ichthyosis | |
| HP:0001249 | Intellectual disability | |
| HP:0000400 | Macrotia | |
| HP:0008404 | Nail dystrophy | |
| HP:0003508 | Proportionate short stature | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| Occasional (29-5%) | ||
| HP:0003355 | Aminoaciduria | |
| HP:0001903 | Anemia | |
Annotation source: 1456297[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99688
- This record as JSON: /data/d/99688.json