Lethal Larsen-like syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal Larsen-like syndrome | |
| fr | Syndrome létal de Larsen-like | |
| de | Larsen-ähnliches Syndrom, letale Form | |
| es | Síndrome similar a Larsen letal | Síndrome de Larsen-like letal |
| it | Sindrome Larsen-simile forma letale | |
| nl | Letaal Larsen-achtig syndroom | |
| pt | Síndrome Larsen-like letal | |
| pl | Śmiertelny zespół podobny do zespoły Larsena | |
| cs | Letální syndrom podobný Larsenovu | |
| uk | Летальний Ларсен-подібний синдром | |
| zh | 致死性Larsen样综合征 | |
| tr | Letal Larsen-benzeri sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245650 | E | validated | |
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| ICD-11 | LD24.E | NTBT | index | validated |
| MONDO | 0009512 | E | validated | |
| MeSH | C537872 | E | validated | |
| UMLS | C4304741 | E | validated | |
| GARD | 3181 | 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 (2):
- 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
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 19014058[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19014058[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/2371
- This record as JSON: /data/d/2371.json