Lethal congenital contracture syndrome type 2
Synonyms: LCCS2 · Multiple contracture syndrome, Israeli-Bedouin type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contractures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal congenital contracture syndrome type 2 | LCCS2 · Multiple contracture syndrome, Israeli-Bedouin type |
| fr | Syndrome des contractures congénitales létales type 2 | LCCS2 · Syndrome des contractures congénitales létales type Israeli-Bedouin |
| de | Syndrom der kongenitalen letalen Kontrakturen Typ 2 | LCCS2 · Syndrom der multiplen Kontrakturen Typ Israeli-Bedouin |
| es | Síndrome de contractura letal congénita tipo 2 | LCCS2 · Síndrome de contractura múltiple tipo Israeli-Bedouin |
| it | Sindrome da contratture congenite letali, tipo 2 | LCCS2 · Sindrome da contratture multiple, tipo israeliano-beduino |
| nl | Letale congenitale contracturen-syndroom type 2 | LCCS2 · Meervoudige contracturen-syndroom, Israeli-Bedouin-type · Meervoudige contracturen-syndroom, Israëlische-Bedoeïenen-type |
| pt | Síndrome de contratura congénita letal tipo 2 | |
| pl | Letalny zespół wrodzonych przykurczy stawowych typu 2 | LCCS2 · Zespół mnogich przykurczy stawowych, typ izraelsko-beduiński |
| cs | Letální syndrom vrozených kontraktur, typ 2 | LCCS2 · Syndrom mnohočetných kontraktur, izraelsko-beduínský typ |
| uk | Летальний синдром вродженої контрактури, тип 2 | LCCS2 · Синдром множинних контрактур, ізраїльсько-бедуїнський тип |
| zh | 致死性先天性挛缩综合征2型 | 多发性挛缩综合征Israeli-Bedouin型 |
| tr | Letal Doğumsal kontraktür sendromu tip 2 | LCCS2 · Çoklu kontraktür sendromu, İsrail-Bedevi tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607598 | E | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| ICD-11 | LD26.4Y | NTBT | index | validated |
| MONDO | 0011868 | E | validated | |
| MeSH | C564369 | E | validated | |
| UMLS | C1843478 | E | validated | |
| GARD | 9177 | 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 (3):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:294965Lethal congenital contracture syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ERBB3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3431 | ENSG00000065361 | 190151 | 12q13.2 | erb-b2 receptor tyrosine kinase 3 | 17701904[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 12548738[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12548738[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/137776
- This record as JSON: /data/d/137776.json