Lethal recessive chondrodysplasia
historical
Synonyms: Maroteaux-Stanescu-Cousin syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal recessive chondrodysplasia | Maroteaux-Stanescu-Cousin syndrome |
| fr | Chondrodysplasie létale autosomique récessive | Syndrome de Maroteaux-Stanescu-Cousin |
| de | Chondrodysplasie, letale, rezessive | Maroteaux-Stanescu-Cousin-Syndrom |
| es | Condrodisplasia recesiva letal | Síndrome de Maroteaux-Stanescu-Cousin |
| it | Condrodisplasia letale recessiva | Sindrome di Maroteaux-Stanescu-Cousin |
| nl | Letale recessieve chondrodysplasie | Syndroom van Maroteaux-Stanescu-Cousin |
| pt | Condrodisplasia letal recessiva | Síndrome Maroteaux-Stanescu-Cousin |
| pl | Śmiertelna recesywna chondrodysplazja | Zespół Maroteaux, Stanescu i Cousina |
| cs | Letální recesivní chondrodysplázie | Maroteauxův-Stanescuho-Cousinův syndrom · Maroteaux-Stanescu-Cousinův syndrom |
| uk | Летальна рецесивна хондродисплазія | Синдром Марото-Станеску-Кузена |
| zh | 致死性隐性软骨发育不全 | Maroteaux-Stanescu-Cousin综合征 |
| tr | Letal resesif kondrodisplazi | Maroteaux-Stanescu-Cousin sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | FB82.Y | NTBT | index | validated |
| MONDO | 0015425 | E | validated | |
| UMLS | C4304745 | E | validated | |
| GARD | 3399 | 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 (1):
- ORPHA:93465Lethal chondrodysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 4 cases | Worldwide | Case(s) | Validated | 3396596[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
12 annotations · validated 2016-07-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0005616 | Accelerated skeletal maturation | Diagnostic criterion |
| HP:0003950 | Flared metaphyses (elbow) | Diagnostic criterion |
| HP:0005789 | Generalized osteosclerosis | Diagnostic criterion |
| HP:0009826 | Limb undergrowth | Diagnostic criterion |
| HP:0000774 | Narrow chest | Diagnostic criterion |
| HP:0003026 | Short long bone | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0000347 | Micrognathia | |
| HP:0001561 | Polyhydramnios | |
| Frequent (79-30%) | ||
| HP:0000969 | Edema | |
| HP:0000158 | Macroglossia | |
| HP:0002983 | Micromelia | |
| HP:0002098 | Respiratory distress | |
Annotation source: 10552065[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1423
- This record as JSON: /data/d/1423.json