Larsen-like syndrome, B3GAT3 type
Synonyms: Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Larsen-like syndrome, B3GAT3 type | Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome |
| fr | Syndrome de Larsen-like de type B3GAT3 | Syndrome de dislocations articulaires multiples-petite taille-dysmorphie craniofaciale-anomalies cardiaques congénitales |
| de | Larsen-ähnliches Syndrom, B3GAT3 Typ | Multiplen Gelenkdislokationen - Kleinwuchs - kraniofaziale Dysmorphien - kongenitaler Herzfehler |
| es | Síndrome similar al Larsen, tipo B3GAT3 | Luxaciones múltiples-talla baja-dismorfia craneofacial-defectos congénitos del corazón · Síndrome de Larsen-like, tipo B3GAT3 |
| it | Sindrome Larsen-simile, tipo B3GAT3 | Dislocazioni articolari multiple - bassa statura - dismorfismi craniofacciali - cardiopatie congenite |
| nl | Larsen-achtig syndroom, B3GAT3-type | Multipele gewrichtsluxaties - kleine gestalte - craniofaciale dysmorfie - congenitale hartdefecten-syndroom |
| pt | Síndrome de Larsen-like, tipo B3GAT3 | |
| pl | Zespół podobny do zespołu Larsena, typ B3GAT3 | Wielokrotne przemieszczenia stawów - niski wzrost - dysmorfia czaszkowo-twarzowa - wrodzone wady serca |
| cs | Larsen-like syndrom, typ B3GAT3 | Syndrom zahrnující mnohočetné dislokace kloubů, malý vzrůst, kraniofaciální dysmorfismus a vrozené srdeční vady |
| uk | Синдром Ларсена, тип B3GAT3 | Множинні вивихи суглобів - низький зріст - черепно-лицьовий дисморфізм - синдром вроджених вад серця |
| zh | B3GAT3型Larsen样综合征 | 多发性关节脱位-矮小-颅面畸形-先天性心脏病综合征 |
| tr | Larsen-benzeri sendrom, B3GAT3 tipi | Çoklu eklem çıkıkları-kısa boy-kraniyofasiyal dismorfizm-doğumsal kalp defektleri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245600 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD24.E | NTBT | attributed | validated |
| MONDO | 0009511 | E | validated | |
| UMLS | C4706575 | 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 (5):
- ORPHA:371183Congenital disorder of glycosylation with cardiac malformation as a major feature
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:371195Congenital disorder of glycosylation-related bone disorder
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:309450Disorder of O-xylosylglycan synthesis
rare inborn errors of metabolism; rare genetic 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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| B3GAT3 | Disease-causing germline mutation(s) in | Assessed | HGNC:923 | ENSG00000149541 | 606374 | 11q12.3 | beta-1,3-glucuronyltransferase 3 | 21763480[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 25893793[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25893793[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/284139
- This record as JSON: /data/d/284139.json