Epidermolysis bullosa simplex with anodontia/hypodontia
Synonyms: EBS with anodontia/hypodontia · Kallin syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare epidermolysis bullosa simplex characterized by the association of the typical trauma-induced blisters with additional features including hearing impairment, alopecia, hypo- or anodontia, and nail dystrophy. Occurrence of vitiliginous skin areas unrelated to the sites of the blisters has also been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epidermolysis bullosa simplex with anodontia/hypodontia | EBS with anodontia/hypodontia · Kallin syndrome |
| fr | Epidermolyse bulleuse simple avec anodontie/hypodontie | EBS avec anodontie/hypodontie · Syndrome de Kallin |
| de | Epidermolysis bullosa simplex mit Anodontie/Hypodontie | EBS mit Anodontie/Hypodontie · Kallin-Syndrom |
| es | Epidermólisis ampollosa simple con anodoncia/hipodoncia | EBS con anodoncia/hipodoncia · Epidermólisis bullosa simple con anodoncia/hipodoncia · Síndrome de Kallin |
| it | Epidermolisi bollosa semplice con anodontia/ipodontia | EBS con anodontia/ipodontia · Sindrome di Kallin |
| nl | Epidermolysis bullosa simplex met anodontie/hypodontie | EBS met anodontie/hypodontie · Syndroom van Kallin |
| pt | Epidermólise bolhosa simples com anodontia/hipodontia | EBS com anodontia/hipodontia · Síndrome Kallin |
| pl | Postać prosta pęcherzowego oddzielania się naskórka z adoncją/hipodoncją | Zespół Gamborga i Nielsena · Zespół Kallina |
| cs | Epidermolysis bullosa simplex s anodoncií/hypodoncií | Gamborgův-Nielsenův syndrom · Kallinův syndrom · Gamborg-Nielsenův syndrom |
| uk | Простий бульозний епідермоліз з анодонтією/гіподонтією | EBS при анодонтії/гіподонтії · Синдром Калліна |
| zh | 单纯大疱性表皮松解伴先天性无齿症/牙发育不全 | Gamborg-Nielsen 综合征 |
| tr | Anodonti/hipodonti ile görülen epidermolizis bülloza simpleks | Kallin sendromu · Gamborg-Nielsen sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q81.0 | NTBT | attributed | validated |
| ICD-11 | EC30 | NTBT | attributed | validated |
| MONDO | 0016514 | E | validated | |
| UMLS | C0432313 | 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 (4):
- ORPHA:595351Epidermolysis bullosa simplex with extracutaneous involvement
rare genetic diseases; rare skin diseases - ORPHA:98027Rare disease with odontological manifestation
rare odontological diseases - ORPHA:519292Syndromic ectopia lentis
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522554Syndromic genetic ectopia lentis
rare genetic 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 |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 2420118[PMID]_7911628[PMID]_25251718[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
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0100798 | Fingernail dysplasia | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0000545 | Myopia | |
| HP:0002209 | Sparse scalp hair | |
| HP:0009804 | Tooth agenesis | |
| Frequent (79-30%) | ||
| HP:0000271 | Abnormality of the face | |
| HP:0001596 | Alopecia | |
| HP:0100543 | Cognitive impairment | |
| HP:0001083 | Ectopia lentis | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000322 | Short philtrum | |
| HP:0100797 | Toenail dysplasia | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
| HP:0003473 | Fatigable weakness | |
| HP:0000365 | Hearing impairment | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2325
- This record as JSON: /data/d/2325.json