ORPHA:503
Larsen syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
An orofacial clefting syndrome characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Larsen syndrome | |
| fr | Syndrome de Larsen | |
| de | Larsen-Syndrom | |
| es | Síndrome de Larsen | |
| it | Sindrome di Larsen | |
| nl | Syndroom van Larsen | |
| pt | Síndrome Larsen | |
| pl | Zespół Larsena | |
| cs | Autozomálně dominantní Larsenův syndrom | |
| uk | Синдром Ларсена | |
| zh | Larsen综合征 | |
| tr | Larsen sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 150250 | E | validated | |
| ICD-10 | Q74.8 | NTBT | inclusion | validated |
| ICD-11 | LD24.E | NTBT | index | validated |
| MONDO | 0007875 | E | validated | |
| MeSH | C580241 | E | validated | |
| UMLS | C0175778 | E | validated | |
| GARD | 6860 | E | validated | |
| MedDRA | 10073856 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:93425Filamin-related bone disorder
rare genetic diseases - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:93441Primary bone dysplasia with multiple joint dislocations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139030Rare developmental defect with connective tissue involvement
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLNB | Disease-causing germline mutation(s) in | Assessed | HGNC:3755 | ENSG00000136068 | 603381 | 3p14.3 | filamin B |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.65 / 100 000 | France | Value and class | Validated | 22925539[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | France | Class only | Validated | 22925539[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.4 / 100 000 | Europe | Value and class | Validated | [EXPERT]_EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | [EXPERT]_EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
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
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0009836 | Broad distal phalanx of finger | |
| HP:0011304 | Broad thumb | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0012368 | Flat face | |
| HP:0000316 | Hypertelorism | |
| HP:0001382 | Joint hypermobility | |
| HP:0005008 | Large joint dislocations | |
| HP:0000272 | Malar flattening | |
| HP:0011220 | Prominent forehead | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0001799 | Short nail | |
| Frequent (79-30%) | ||
| HP:0004232 | Accessory carpal bones | |
| Occasional (29-5%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0003319 | Abnormality of the cervical spine | |
| HP:0000175 | Cleft palate | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0001363 | Craniosynostosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0006101 | Finger syndactyly | |
| HP:0001249 | Intellectual disability | |
| HP:0008755 | Laryngotracheomalacia | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0003422 | Vertebral segmentation defect | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/503
- This record as JSON: /data/d/503.json