Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
historical
Synonyms: Late-onset localized JEB-intellectual disability syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood
- Status
- historical
A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognatism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome | Late-onset localized JEB-intellectual disability syndrome |
| fr | Syndrome d'épidermolyse bulleuse jonctionnelle localisée à début tardif-déficience intellectuelle | Syndrome d'EBJ localisée à début tardif-déficience intellectuelle |
| de | Spät-einsetzende lokalisierte junktionale Epidermolysis bullosa-Intelligenzminderung-Syndrom | Spät-einsetzende lokalisierte JEB-Intelligenzminderung-Syndrom |
| es | Síndrome de epidermólisis ampollosa juntural localizada de inicio tardío-discapacidad intelectual | Síndrome de JEB localizada de inicio tardío-discapacidad intelectual · Síndrome de epidermólisis bullosa juntural localizada de inicio tardío-discapacidad intelectual |
| it | Sindrome da epidermolisi bollosa giunzionale localizzata ad esordio tardivo e disabilità intellettiva | Sindrome da JEB localizzata ad esordio tardivo e disabilità intellettiva |
| nl | Gelokaliseerde junctionele epidermolysis bullosa met late aanvang - intellectuele achterstand-syndroom | Gelokaliseerde JEB met late aanvang - intellectuele achterstand-syndroom |
| pt | Síndrome de epidermólise bolhosa juncional localizada de início tardio-perturbação do desenvolvimento intelectual | |
| pl | Zespół pęcherzowego oddzielania się naskórka o typie granicznym zlokalizowanym i późnym początku oraz niepełnosprawności intelektualnej | = en |
| cs | Syndrom zahrnující lokalizovanou junkční epidermolysis bullosa s pozdním nástupem a mentální retardaci | = en |
| uk | Синдром пізнього локалізованого бульозного епідермолізу та інтелектуальної недостатності | Пізній початок локалізованого синдрому JEB-інтелектуальної недостатності |
| zh | 迟发性局限性交界型大疱性表皮松解症-智力障碍综合征 | = en |
| tr | Geç-başlangıçlı lokalize junctional epidermolizis bülloza-zihinsel yetersizlik sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 226440 | E | validated | |
| ICD-10 | Q81.8 | NTBT | attributed | validated |
| ICD-11 | EC31 | NTBT | attributed | validated |
| MONDO | 0009177 | E | validated | |
| UMLS | C4751165 | E | validated | |
| GARD | 299 | 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:305Junctional epidermolysis bullosa
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; 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 | 2 cases | Worldwide | Case(s) | Validated | 1642260[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1642260[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231556
- This record as JSON: /data/d/231556.json