ORPHA:50945
Blomstrand lethal chondrodysplasia
Synonyms: BLC · BOCD · Blomstrand chondrodysplasia · Blomstrand osteochondrodysplasia · Chondrodysplasia, Blomstrand type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Blomstrand lethal chondrodysplasia | BLC · BOCD · Blomstrand chondrodysplasia · Blomstrand osteochondrodysplasia · Chondrodysplasia, Blomstrand type |
| fr | Chondrodysplasie létale de Blomstrand | BLC · BOCD · Chondrodysplasie de Blomstrand · Chondrodysplasie type Blomstrand · Ostéochondrodysplasie de Blomstrand |
| de | Chondrodysplasie Typ Blomstrand | BLC · BOCD · Blomstrand letale Chondrodysplasie |
| es | Condrodisplasia de Blomstrand letal | BLC · BOCD · Condrodisplasia de Blomstrand · Condrodisplasia, tipo Blomstrand · Osteocondrodisplasia de Blomstrand |
| it | Condrodisplasia letale di Blomstrand | BLC · BOCD · Condrodisplasia di Blomstrand · Condrodisplasia tipo Blomstrand · Osteocondrodisplasia di Blomstrand |
| nl | Letale chondrodysplasie van Blomstrand | BLC · BOCD · Chondrodysplasie van Blomstrand · Chondrodysplasie, Blomstrand-type · Osteochondrodysplasie van Blomstrand |
| pt | Condrodisplasia fatal Blomstrand | BLC · BOCD · Condrodisplasia Blomstrand · Osteocondrodisplasia Blomstrand |
| pl | Chondrodysplazja typu Blomstranda | BLC · Śmiertelna chondrodysplazja Blomstranda · Letalna chondrodysplazja Blomstranda |
| cs | Blomstrandova letální chondrodysplázie | BLC · BOCD · Blomstrandova chondrodysplázie · Blomstrandova osteochondrodysplázie · Chondrodysplázie, Blomstrandův typ |
| uk | Летальна хондродисплазія Бломстранда | BLC · Хондродисплазія Бломстранда · Остеохондродисплазія Бломстранда · BOCD · Хондродисплазія, тип Бломстранда |
| zh | Blomstrand型致死性软骨发育不良 | 骨软骨发育不良Blomstrand型 |
| tr | Blomstrand letal kondrodisplazi | BLC · BOCD · Blomstrand kondrodisplazi · Blomstrand osteokondrodisplazi · Kondrodisplazi, Blomstrand tipi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 215045 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0008970 | E | validated | |
| MeSH | C537914 | E | validated | |
| UMLS | C1859148 | E | validated | |
| GARD | 914 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:93443Neonatal osteosclerotic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTH1R | Disease-causing germline mutation(s) in | Assessed | HGNC:9608 | ENSG00000160801 | 168468 | 3p21.31 | parathyroid hormone 1 receptor | 9832466[PMID]_9745456[PMID]_9649554[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 27353973[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27353973[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.
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HPO phenotypes
37 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0006660 | Aplastic clavicles | |
| HP:0000916 | Broad clavicles | |
| HP:0000518 | Cataract | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0006402 | Distal shortening of limbs | |
| HP:0003015 | Flared metaphysis | |
| HP:0011001 | Increased bone mineral density | |
| HP:0005716 | Lethal skeletal dysplasia | |
| HP:0000369 | Low-set ears | |
| HP:0000272 | Malar flattening | |
| HP:0003027 | Mesomelia | |
| HP:0003021 | Metaphyseal cupping | |
| HP:0000347 | Micrognathia | |
| HP:0000774 | Narrow chest | |
| HP:0008921 | Neonatal short-limb short stature | |
| HP:0000926 | Platyspondyly | |
| HP:0001561 | Polyhydramnios | |
| HP:0001622 | Premature birth | |
| HP:0000520 | Proptosis | |
| HP:0001538 | Protuberant abdomen | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0008905 | Rhizomelia | |
| HP:0003196 | Short nose | |
| HP:0000773 | Short ribs | |
| HP:0010306 | Short thorax | |
| HP:0000506 | Telecanthus | |
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0006487 | Bowing of the long bones | |
| HP:0001789 | Hydrops fetalis | |
| HP:0000343 | Long philtrum | |
| HP:0000695 | Natal tooth | |
| HP:0010808 | Protruding tongue | |
| HP:0010049 | Short metacarpal | |
| HP:0100240 | Synostosis of joints | |
| Occasional (29-5%) | ||
| HP:0001680 | Coarctation of aorta | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: ISBN:0195214749[OTHER]_10664159[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/50945
- This record as JSON: /data/d/50945.json