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Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.
Features include always present findings: Severe short stature, Epiphyseal dysplasia, Proptosis, and Metaphyseal widening and others; and very common findings: Knee dislocation. 54 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 6 | Relative macrocephaly, Coarse facial features, Round face |
XYLT1 function has not been fully characterized.
Desbuquois dysplasia 2 is associated with mutations in the XYLT1 gene on chromosome 16.
Genetic testing for XYLT1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 9 always present features, 1 very common feature, 4 common features.
No clinical trials have been registered for Desbuquois dysplasia 2.
4 publications have been identified in PubMed for Desbuquois dysplasia 2. Kisho has analyzed 3 by research type. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).
Öztürk M (2025). [PMID: 40461715](https://pubmed.ncbi.nlm.nih.gov/40461715/). *Eur J Pediatr*. [Epidemiology / Natural History]
Ly TD (2025). [PMID: 40806493](https://pubmed.ncbi.nlm.nih.gov/40806493/). *Int J Mol Sci*. [Basic Science / Preclinical]
Ouidja MO (2024). [PMID: 39630030](https://pubmed.ncbi.nlm.nih.gov/39630030/). *Essays Biochem*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Desbuquois dysplasia 2
Bones and joints
5 |
Excessive inward curve of the lower back (lumbar hyperlordosis), Joint hypermobility, Monkey wrench femoral neck |
Brain and nerves | 4 | Intellectual disability, Global developmental delay, Delayed speech and language development |
Growth and development | 3 | Severe short stature, Postnatal growth retardation, Intrauterine growth retardation |
Arms and legs | 3 | Broad foot, Toe clinodactyly, Short phalanx of finger |
Muscles | 1 | Low muscle tone (hypotonia) |
Lungs and breathing | 1 | Neonatal respiratory distress |
Pregnancy and birth | 1 | Neonatal respiratory distress |
Age of onset: newborn period.