Desbuquois dysplasia
Findings
No curated finding names Desbuquois dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0015426), read 2026-09-29. CC BY 4.0.
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal femoral neck/head morphologyHPOHP:0003366
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Accelerated skeletal maturationHPOHP:0005616
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the abdominal wall musculatureHPOHP:0010318
- Very frequent (80% to 99% of cases)
- Bell-shaped thoraxHPOHP:0001591
- Very frequent (80% to 99% of cases)
Show the remaining 17
- Patellar dislocationHPOHP:0002999
- Very frequent (80% to 99% of cases)
- ProptosisHPOHP:0000520
- Very frequent (80% to 99% of cases)
- Severe short statureHPOHP:0003510
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- Abnormal eyelash morphologyHPOHP:0000499
- Frequent (30% to 79% of cases)
- Blue scleraeHPOHP:0000592
- Frequent (30% to 79% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- Narrower terms (2)
Other names
2 names
Resolves to: Desbuquois dysplasia
- Also called
- DBQDdesbuquois syndrome