Lethal congenital contracture syndrome type 1
Synonyms: Herva disease · LCCS1 · Multiple contracture syndrome, Finnish type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal congenital contracture syndrome type 1 | Herva disease · LCCS1 · Multiple contracture syndrome, Finnish type |
| fr | Syndrome des contractures congénitales létales type 1 | LCCS1 · Maladie de Herva · Syndrome des contractures multiples type finlandais |
| de | Syndrom der kongenitalen letalen Kontrakturen Typ 1 | Herva-Krankheit · LCCS1 · Syndrom der multiplen Kontrakturen, finnischer Typ |
| es | Síndrome de contracturas congénitas letales tipo 1 | Enfermedad de Herva · LCCS1 · Síndrome de contracturas múltiples tipo finlandés |
| it | Sindrome da contratture congenite letali, tipo 1 | LCCS1 · Malattia di Herva · Sindrome da contratture multiple, tipo finlandese |
| nl | Letale congenitale contracturen-syndroom type 1 | LCCS1 · Meervoudige contracturen-syndroom, Fins type · Ziekte van Herva |
| pt | Síndrome de contraturas congénitas letais tipo 1 | Doença de Herva · Síndrome de artrogripose congénita letal · Síndrome de artrogripose múltipla tipo filandês |
| pl | Letalny zespół wrodzonych przykurczów stawowych typu 1 | Choroba Herva · LCCS1 · Zespół mnogich przykurczów, typu fińskiego |
| cs | Vrozený letální syndrom kontraktur, typ 1 | Nemoc Hervaové · LCCS1 · Syndrom mnohočetných kontraktur, finský typ |
| uk | Летальний синдром вродженої контрактури, тип 1 | Хвороба Герва · LCCS1 · Синдром множинних контрактур, фінський тип |
| zh | 致死性先天性关节挛缩综合征1型 | 多发性挛缩综合征，芬兰型 |
| tr | Letal Doğumsal kontraktür sendromu tip 1 | LCCS1 · Herva hastalığı · çoklu kontraktür sendromu, Fin tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 253310 | E | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| ICD-11 | LD26.4Y | NTBT | index | validated |
| MONDO | 0009670 | E | validated | |
| MeSH | C537194 | E | validated | |
| UMLS | C1854664 | E | validated | |
| GARD | 3227 | 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 (6):
- 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 - ORPHA:108993Non-syndromic respiratory or mediastinal malformation
rare genetic diseases - ORPHA:108995Syndromic respiratory or mediastinal malformation
rare developmental anomalies during embryogenesis; rare surgical thoracic diseases - ORPHA:182108Thoracic malformation
rare respiratory diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4315 | ENSG00000119392 | 603371 | 9q34.11 | GLE1 RNA export mediator | 18204449[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Finland | Class only | Validated | 32670090[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 3.96 / 100 000 | Finland | Value and class | Validated | 16892327[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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003272 | Abnormality of the hip bone | |
| HP:0000316 | Hypertelorism | |
| HP:0000347 | Micrognathia | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0004322 | Short stature | |
| HP:0003202 | Skeletal muscle atrophy | |
| Frequent (79-30%) | ||
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0009775 | Amniotic constriction ring | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0001561 | Polyhydramnios | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002757 | Recurrent fractures | |
| HP:0000470 | Short neck | |
| HP:0003100 | Slender long bone | |
| HP:0000465 | Webbed neck | |
| Occasional (29-5%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
Run the differential on the 6 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1486
- This record as JSON: /data/d/1486.json