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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.
Features include very common findings: Anteverted nares, Short neck, Glaucoma, and Proptosis and others; and common findings: Posteriorly rotated ears, Abnormal eyelash morphology, Blue sclerae, and Ventricular septal defect and others.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 4 | Abnormal femoral neck/head morphology, Accelerated skeletal maturation, Joint hypermobility |
Phenotype severity distribution: 16 very common features, 13 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Desbuquois dysplasia.
11 publications have been identified in PubMed for Desbuquois dysplasia. Research spans Case Report / Case Series (36%), Basic Science / Preclinical (36%), and Review / Meta-Analysis (18%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 4 | 36% |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 5:30 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Desbuquois dysplasia
Arms and legs |
4 |
Disproportionate short-limb short stature, Camptodactyly of finger, Clinodactyly of the 5th finger |
Brain and nerves | 2 | Intellectual disability, Depressed nasal bridge |
Growth and development | 2 | Severe short stature, Disproportionate short-limb short stature |
Eyes | 1 | Glaucoma |
Digestive system | 1 | Aplasia/Hypoplasia of the abdominal wall musculature |
Heart and blood vessels | 1 | Ventricular septal defect |
Age of onset: at birth, later in life, adulthood, newborn period.
4 |
36% |
Research summaries | 2 | 18% |
Disease patterns and progression | 1 | 9% |
Sai Ramya V (2026). [PMID: 41837231](https://pubmed.ncbi.nlm.nih.gov/41837231/). *JCEM Case Rep*. [Case Report / Case Series]
Tsujioka Y (2026). [PMID: 42094029](https://pubmed.ncbi.nlm.nih.gov/42094029/). *Mol Syndromol*. [Review / Meta-Analysis]
Thamissarakul S (2026). [PMID: 41675269](https://pubmed.ncbi.nlm.nih.gov/41675269/). *Case Rep Genet*. [Basic Science / Preclinical]
Özalp M (2025). [PMID: 40368527](https://pubmed.ncbi.nlm.nih.gov/40368527/). *Taiwan J Obstet Gynecol*. [Case Report / Case Series]
Ly TD (2025). [PMID: 40806493](https://pubmed.ncbi.nlm.nih.gov/40806493/). *Int J Mol Sci*. [Basic Science / Preclinical]
Yamashita R (2025). [PMID: 40141107](https://pubmed.ncbi.nlm.nih.gov/40141107/). *Int J Mol Sci*. [Basic Science / Preclinical]
Öztürk M (2025). [PMID: 40461715](https://pubmed.ncbi.nlm.nih.gov/40461715/). *Eur J Pediatr*. [Epidemiology / Natural History]
Öztürk M (2025). [PMID: 39989222](https://pubmed.ncbi.nlm.nih.gov/39989222/). *Cardiol Young*. [Case Report / Case Series]
Daşar T (2025). [PMID: 39618316](https://pubmed.ncbi.nlm.nih.gov/39618316/). *Am J Med Genet A*. [Case Report / Case Series]
Gramegna Tota C (2024). [PMID: 39334831](https://pubmed.ncbi.nlm.nih.gov/39334831/). *Biomolecules*. [Basic Science / Preclinical]