Lethal Kniest-like dysplasia
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
A rare, lethal, congenital, chondrodysplasia disorder characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities associated with a 'Swiss cheese' appearance of the cartilage matrix, as well as distinctive changes in the growth plate and resting cartilage, resulting in death in the neonatal period. There have been no further descriptions in the literature since 1983.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal Kniest-like dysplasia | |
| fr | Dysplasie létale Kniest-like | |
| de | Kniest-ähnliche Dysplasie, letale | |
| es | Displasia similar a Kniest letal | Displasia de Kniest-like letal |
| it | Displasia letale simile alla sindrome di Knieste | |
| nl | Letale Kniest-achtige dysplasie | |
| pt | Displasia Kniest-like letal | |
| pl | Śmiertelna dysplazja podobna do dysplazji Kniesta | |
| cs | Letální dysplázie podobná Kniestově | |
| uk | Летальна Кніст-подібна дисплазія | |
| zh | 致死性类Kniest发育不良 | |
| tr | Letal Kniest benzeri displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245190 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | attributed | validated |
| MONDO | 0009498 | E | validated | |
| MeSH | C537208 | E | validated | |
| UMLS | C1855605 | E | validated | |
| GARD | 3124 | 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 | 2 cases | Worldwide | Case(s) | Validated | 6358440[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6358440[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
27 annotations · validated 2017-12-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008178 | Abnormal cartilage matrix | |
| HP:0002763 | Abnormal cartilage morphology | |
| HP:0003174 | Abnormality of the ischium | |
| HP:0000907 | Anterior rib cupping | |
| HP:0001631 | Atrial septal defect | |
| HP:0001156 | Brachydactyly | |
| HP:0001623 | Breech presentation | |
| HP:0005622 | Broad long bones | |
| HP:0000175 | Cleft palate | |
| HP:0003417 | Coronal cleft vertebrae | |
| HP:0000969 | Edema | |
| HP:0003015 | Flared metaphysis | |
| HP:0012368 | Flat face | |
| HP:0000946 | Hypoplastic ilia | |
| HP:0008479 | Hypoplastic vertebral bodies | |
| HP:0000369 | Low-set ears | |
| HP:0000256 | Macrocephaly | |
| HP:0005026 | Mesomelic/rhizomelic limb shortening | |
| HP:0000774 | Narrow chest | |
| HP:0000926 | Platyspondyly | |
| HP:0001561 | Polyhydramnios | |
| HP:0001538 | Protuberant abdomen | |
| HP:0008890 | Severe short-limb dwarfism | |
| HP:0000470 | Short neck | |
| HP:0000773 | Short ribs | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000260 | Wide anterior fontanel | |
Annotation source: 6358440[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2347
- This record as JSON: /data/d/2347.json