ORPHA:83628
LUMBAR syndrome
Synonyms: Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome · PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome · SACRAL syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | LUMBAR syndrome | Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome · PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome · SACRAL syndrome |
| fr | Syndrome LUMBAR | Syndrome PELVIS · Syndrome SACRAL · Syndrome d'hémangiome périnéal-malformations génitales externes-lipomyéloméningocèle-anomalies vésicorénales-imperforation anale-acrochordon |
| de | LUMBAR-Syndrom | Hämangiom des unteren Körpers-urogenitale Anomalien-Myelopathie-knöcherne Fehlbildungen-anorektale und arterielle Fehlbildungen-Nierenanomalien-Syndrom · PELVIS-Syndrom · Perineale Hämangiome-externe genitale Fehlbildungen-Lipomyelomeningozele-vesikorenale Fehlbildungen-Analatresie-Stielwarzen · SACRAL-Syndrom |
| es | Síndrome LUMBAR | Síndrome PELVIS · Síndrome SACRAL · Síndrome de hemangioma en la mitad inferior del cuerpo - anomalías urogenitales-renales - mielopatía - malformaciones óseas-anorrectales-arteriales · Síndrome de hemangioma en la mitad inferior del cuerpo-anomalías urogenitales-renales-mielopatía-malformaciones óseas-anorrectales-arteriales · Síndrome de hemangioma perineal-malformaciones genitales externas-lipomielomeningocele-anomalías vésico-renales-ano imperforado-apéndice cutáneo |
| it | Sindrome PELVIS | Emangioma perineale - malformazioni dei genitali esterni - lipomielomeningocele - anomalie vescicorenali - ano imperforato · Sequenza malformativa del setto urorettale |
| nl | LUMBAR-syndroom | Hemangioom van onderlichaam - urogenitale anomalieën - myelopathie - botmisvormingen - anorectale en arteriële malformaties - renale anomalieën-syndroom · PELVIS-syndroom · Perineaal hemangioom - malformaties van externe genitaliën - lipomyelomeningocele - vesicorenale afwijkingen - anusatresie - huidaanhangsel-syndroom · SACRAL-syndroom |
| pt | Síndrome LUMBAR | Síndrome de hemangioma perineal-malformações genitais externas-lipomielomeningocelo-anomalias vesico-renais-ânus imperfurado-apêndice cutâneo · Síndrome PELVIS |
| pl | Zespół PELVIS | Naczyniaki krocza - wady zewnętrznych narządów wewnętrznych - lipomyelomeningocele - wady pęcherza moczowego i nerek - niedrożność odbytu · Sekwencja malformacyjna przegrody moczowo-płciowej |
| cs | PELVIS syndrom | Syndrom zahrnující perineální hemangiom, malformaci zevního genitálu, lipomyelomeningokélu, vezikorenální abnormality a atrézii anu · Malformační sekvence urorektálního septa |
| uk | Синдром LUMBAR | Синдром гемангіоми нижньої частини тіла - урогенітальних аномалій - мієлопатіяї- кісткових деформацій - аноректальних та артеріальних мальформацій - ниркових аномалій · Синдром PELVIS · Синдром гемангіоми промежини - вади розвитку зовнішніх статевих органів - ліпомієломенінгоцеле - везикоренальних аномалій - імперфорації заднього проходу - шкірної мітки · Синдром SACRAL |
| zh | LUMBAR综合征 | SACRAL综合征 |
| tr | LUMBAR sendromu | Alt vücut hemanjiyomu-ürogenital anomaliler-miyelopati-kemik deformiteleri-anorektal ve arteriyel malformasyonlar-renal anomaliler sendromu · Perineal hemanjiyom-eksternal genital malformasyonlar-lipomiyelomeningosel-vezikorenal anormallikler-imperforat anüs-deri etiket sendromu · PELVIS sendromu · SACRAL sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0019388 | E | validated | |
| UMLS | C4510867 | E | validated | |
| MedDRA | 10082949 | 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 (6):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:210589Rare infantile hemangioma
rare developmental anomalies during embryogenesis; rare circulatory system diseases; rare neoplastic diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:79385Unclassified genetic skin disorder
rare genetic diseases; rare skin diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2125Sacral hemangiomas-multiple congenital abnormalities syndrome moved to · inactive
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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 | 54 cases | Worldwide | Case(s) | Validated | 24259379[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001028 | Hemangioma | |
| Frequent (79-30%) | ||
| HP:0000062 | Ambiguous genitalia | |
| HP:0002023 | Anal atresia | |
| HP:0000048 | Bifid scrotum | |
| HP:0000136 | Bifid uterus | |
| HP:0002836 | Bladder exstrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0004397 | Ectopic anus | |
| HP:0000059 | Hypoplastic labia majora | |
| HP:0000104 | Renal agenesis | |
| HP:0000075 | Renal duplication | |
| HP:0010609 | Skin tags | |
| HP:0000076 | Vesicoureteral reflux | |
| Occasional (29-5%) | ||
| HP:0000047 | Hypospadias | |
| HP:0000054 | Micropenis | |
| HP:0002475 | Myelomeningocele | |
| HP:0002414 | Spina bifida | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 16847205[PMID]_23278237[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/83628
- This record as JSON: /data/d/83628.json