ORPHA:1816
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
historical
Synonyms: Berlin syndrome · Ectodermal dysplasia, Berlin type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome is a rare ectodermal dysplasia syndrome characterized by congenital generalized melanoleukoderma, hypodontia and hypotrichosis associated with infantilism, intellectual disability and growth delay. There have been no further descriptions in the literature since 1961.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome | Berlin syndrome · Ectodermal dysplasia, Berlin type |
| fr | Syndrome de leucomélanodermie-infantilisme-déficience intellectuelle-hypodontie-hypotrichosis | Dysplasie ectodermique type Berlin |
| de | Leukomelanodermie-Infantilismus-Intelligenzminderung-Hypodontie-Hypotrichose-Syndrom | Berlin-Syndrom · Dysplasie, ektodermale, Typ Berlin |
| es | Síndrome de leucomelanodermia-infantilismo-discapacidad intelectual-hipodoncia-hipotricosis | Displasia ectodérmica tipo Berlin · Síndrome de Berlin |
| it | Sindrome da leucomelanodermia-infantilismo-disabilità intellettiva-ipodontia-ipotricosi | Displasia ectodermica tipo Berlin · Sindrome di Berlin |
| nl | Leukomelanodermie - infantilisme - intellectuele achterstand - hypodontie - hypotrichose-syndroom | Berlijn-syndroom · Ectodermale dysplasie, Berlijn-type |
| pt | Síndrome de leucomelanodermia-infantilismo-perturbação do desenvolvimento intelectual-hipodontia-hipotricose | Displasia ectodérmica, tipo Berlin · Síndrome Berlim |
| pl | Zespół leukomelanodermii, infantylizmu, niepełnosprawności intelektualnej i hipotrichozy | Zespół Berlin · Dysplazja ektodermalna typu Berlin |
| cs | Ektodermální dysplázie, berlínský typ | Syndrom zahrnující leukomelanoderma, mentální retardaci a hypotrichózu |
| uk | Синдром лейкомеланодермії-інфантилізму-інтелектуальної недостатності-гіподонтії-гіпотрихозу | Синдром Берліна · Ектодермальна дисплазія, берлінський тип |
| zh | 白斑黑皮病-幼稚型-智力障碍-缺牙-稀毛综合征 | Berlin综合征 |
| tr | Lökomelanoderma-infantilizm-zihinsel yetersizlik-hipodonti-hipotrikoz sendromu | Ektodermal displazi, Berlin tipi · Berlin sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 246500 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009522 | E | validated | |
| UMLS | C0406729 | E | validated | |
| GARD | 2044 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 13867923[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_13867923[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.
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HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0000144 | Decreased fertility | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000823 | Delayed puberty | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0002230 | Generalized hirsutism | |
| HP:0007513 | Generalized hypopigmentation | |
| HP:0000668 | Hypodontia | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000047 | Hypospadias | |
| HP:0001249 | Intellectual disability | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0000787 | Nephrolithiasis | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0009721 | Shagreen patch | |
| HP:0004322 | Short stature | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1816
- This record as JSON: /data/d/1816.json