Ectodermal dysplasia-blindness syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, severe visual impairment due to ocular malformations (microphthalmos and microcornea with sclerocornea), short stature, hypotrichosis, dental anomalies, and dysmorphic facial features (such as a narrow nasal bridge with marked distal flaring and low-set, protruding ears). There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ectodermal dysplasia-blindness syndrome | |
| fr | Syndrome de dysplasie ectodermique-cécité | |
| de | Ektodermale Dysplasie-Blindheit-Syndrom | |
| es | Síndrome de displasia ectodérmica-ceguera | |
| it | Sindrome displasia ectodermica-cecità | |
| nl | Ectodermale dysplasie - blindheid-syndroom | |
| pt | Síndrome de displasia ectodérmica-cegueira | |
| pl | Dysplazja ektodermalna - ślepota | |
| cs | Syndrom zahrnující ektodermální dysplázii a slepotu | |
| uk | Синдром ектодермальної дисплазії - сліпоти | |
| zh | 外胚层发育不良-失明综合征 | |
| tr | Ektodermal displazi-körlük sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 268320 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0010001 | E | validated | |
| UMLS | C4302546 | E | validated | |
| GARD | 2045 | 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:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
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 | 1583659[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1583659[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
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000618 | Blindness | |
| HP:0001131 | Corneal dystrophy | |
| HP:0001249 | Intellectual disability | |
| HP:0000482 | Microcornea | |
| HP:0000568 | Microphthalmia | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0000411 | Protruding ear | |
| HP:0000647 | Sclerocornea | |
| HP:0004322 | Short stature | |
| HP:0008070 | Sparse hair | |
| Occasional (29-5%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0000518 | Cataract | |
| HP:0002213 | Fine hair | |
| HP:0000365 | Hearing impairment | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000966 | Hypohidrosis | |
| HP:0001097 | Keratoconjunctivitis sicca | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0200042 | Skin ulcer | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1806
- This record as JSON: /data/d/1806.json