Lethal congenital contracture syndrome type 3
Synonyms: LCCS3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Lethal congenital contracture syndrome type 3 is a rare arthrogryposis syndrome characterized by clinical features identical to Lethal congenital contracture syndrome type 2 (i.e. multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cells degeneration, skeletal muscle atrophy (mainly in the lower limbs), in the absence of hydrops, pterygia or bone fractures), but without bladder enlargement.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal congenital contracture syndrome type 3 | LCCS3 |
| fr | Syndrome des contractures congénitales létales type 3 | = en |
| de | Syndrom der kongenitalen letalen Kontrakturen Typ 3 | = en |
| es | Síndrome de contractura letal congénita tipo 3 | = en |
| it | Sindrome da contratture congenite letali, tipo 3 | = en |
| nl | Letale congenitale contracturen-syndroom type 3 | = en |
| pt | Síndrome de contratura congénita letal tipo 3 | |
| pl | Letalny zespół wrodzonych przykurczy stawowych typu 3 | = en |
| cs | Syndrom vrozených letálních kontraktur, typ 3 | = en |
| uk | Летальний синдром вродженої контрактури, тип 3 | = en |
| zh | 致死性先天性挛缩综合征3型 | = en |
| tr | Letal Doğumsal kontraktür sendromu tip 3 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611369 | E | validated | |
| OMIM | 614915 | BTNT | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| ICD-11 | LD26.4Y | NTBT | index | validated |
| MONDO | 0012656 | E | validated | |
| MeSH | C566961 | E | validated | |
| UMLS | C1969655 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYBPC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7549 | ENSG00000196091 | 160794 | 12q23.2 | myosin binding protein C1 | 22610851[PMID] |
| PIP5K1C | Disease-causing germline mutation(s) in | Assessed | HGNC:8996 | ENSG00000186111 | 606102 | 19p13.3 | phosphatidylinositol-4-phosphate 5-kinase type 1 gamma | 17701898[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 17701898[PMID]_22610851[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17701898[PMID]_22610851[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/137783
- This record as JSON: /data/d/137783.json