Desbuquois syndrome
Synonyms: DBQD · Desbuquois dysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Desbuquois syndrome | DBQD · Desbuquois dysplasia |
| fr | Syndrome de Desbuquois | DBQD · Dysplasie de Desbuquois |
| de | Desbuquois-Syndrom | DBQD · Desbuquois-Dysplasie |
| es | Síndrome de Desbuquois | DBQD · Displasia de Desbuquois |
| it | Sindrome di Desbuquois | |
| nl | Syndroom van Desbuquois | DBQD · Dysplasie van Desbuquois |
| pt | Síndrome Desbuquois | DBQD · Displasia de Desbuquois |
| pl | Zespół Desbuquoisa | Dysplazja Desbuquoisa |
| cs | Desbuquoisův syndrom | Desbuquoisova dysplázie |
| uk | Desbuquois синдром (DBQS) | DBQD · Дисплазія Дебюкуа |
| zh | Desbuquois综合征 | Desbuquois发育不良 |
| tr | Desbuquois sendromu | DBQD · Desbuquois displazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251450 | BTNT | validated | |
| OMIM | 615777 | BTNT | validated | |
| OMIM | 618870 | BTNT | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.E | NTBT | index | validated |
| MONDO | 0015426 | E | validated | |
| MeSH | C535943 | E | validated | |
| UMLS | C0432242 | E | validated | |
| GARD | 1818 | 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 (3):
- 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 - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1842OBSOLETE: Bone dysplasia, lethal Holmgren type referred to · inactive
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CANT1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19721 | ENSG00000171302 | 613165 | 17q25.3 | calcium activated nucleotidase 1 | 22539336[PMID] |
| XYLT1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15516 | ENSG00000103489 | 608124 | 16p12.3 | xylosyltransferase 1 | 24581741[PMID] |
| CSGALNACT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:24290 | ENSG00000147408 | 616615 | 8p21.3 | chondroitin sulfate N-acetylgalactosaminyltransferase 1 | 31325655[PMID]_27599773[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 16642505[PMID]_[EXPERT] | |
| 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
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0003366 | Abnormality of the femoral neck or head region | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0000463 | Anteverted nares | |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | |
| HP:0001591 | Bell-shaped thorax | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0000501 | Glaucoma | |
| HP:0001249 | Intellectual disability | |
| HP:0001382 | Joint hypermobility | |
| HP:0002999 | Patellar dislocation | |
| HP:0000520 | Proptosis | |
| HP:0003510 | Severe short stature | |
| HP:0000470 | Short neck | |
| Frequent (79-30%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0000592 | Blue sclerae | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002673 | Coxa valga | |
| HP:0002812 | Coxa vara | |
| HP:0003042 | Elbow dislocation | |
| HP:0002816 | Genu recurvatum | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0002650 | Scoliosis | |
| HP:0200055 | Small hand | |
| HP:0008070 | Sparse hair | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1425
- This record as JSON: /data/d/1425.json