Complex lethal osteochondrodysplasia
Synonyms: Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal
- Status
- active
A rare, genetic, primary bone dysplasia with decreased bone density characterized by fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Complex lethal osteochondrodysplasia | Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type |
| fr | Ostéochondrodysplasie complexe létale | Ostéochondrodysplasie complexe létale, type Symoens-Barnes-Gistelinck |
| de | Osteochondrodysplasie, komplexe letale | Komplexe letale Osteochondrodysplasie Typ Symoens-Barnes-Gistelinck |
| es | Osteocondrodisplasia letal compleja | Osteocondrodisplasia letal compleja tipo Symoens-Barnes-Gistelinck |
| it | Osteocondrodisplasia letale complessa | |
| nl | Complexe letale osteochondrodysplasie | Complexe letale osteochondrodysplasie, Symoens-Barnes-Gistelinck type |
| pt | Osteocondrodisplasia complexa fatal | |
| pl | Złożona śmiertelna osteochondrodysplazja | Złożona śmiertelna osteochondrodysplazja typu Symoensa, Barnesa i Gistelincka |
| cs | Komplexní letální osteochondrodysplázie | Komplex letální osteochondrodysplázie, Symoensové-Barnesův-Gistelinckové typ · Komplex letální osteochondrodysplázie, Symoens-Barnes-Gistelinckové typ |
| uk | Складна летальна остеохондродисплазія | Комплексна летальна остеохондродисплазія типу Симоенса-Барнса-Гістелінка |
| zh | 复杂致死性骨软骨发育不良 | 复杂致死性骨软骨发育不良，Symoens-Barnes-Gistelinck型 |
| tr | Kompleks letal osteokondrodisplazi | Kompleks letal osteokondrodisplazi, Symoens-Barnes-Gistelinck tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616897 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.KY | NTBT | attributed | validated |
| MONDO | 0014821 | E | validated | |
| UMLS | C4225162 | 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:363250Ciliopathy
rare genetic diseases - ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TAPT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:26887 | ENSG00000169762 | 612758 | 4p15.32 | transmembrane anterior posterior transformation 1 | 26365339[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 26365339[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26365339[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/457378
- This record as JSON: /data/d/457378.json