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A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.
Features include always present findings: Midface retrusion; and very common findings: Short stature. 40 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 10 | Carpal bone hypoplasia, Flat capital femoral epiphysis, Hypoplasia of the capital femoral epiphysis |
Arms and legs | 5 | Slender proximal phalanx of finger, Long distal phalanx of finger, Slender distal phalanx of finger |
Muscles | 2 | Low muscle tone (hypotonia), Generalized hypotonia |
Pregnancy and birth | 1 | Congenital hip dislocation |
Growth and development | 1 | Short stature |
Skin | 1 | Soft skin |
KIF22 encodes kinesin family member 22 (665 aa). Kinesin family member that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA. Highest expression in Cells EBV-transformed lymphocytes (71.3 TPM) and Testis (51.3 TPM).
Spondyloepimetaphyseal dysplasia with multiple dislocations is associated with mutations in the KIF22 gene on chromosome 16.
KIF22 is classified as a druggable target (Dna Repair category) with score 0.0.
Genetic testing for KIF22 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 1 very common feature, 5 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for spondyloepimetaphyseal dysplasia with multiple dislocations.
4 publications have been identified in PubMed for spondyloepimetaphyseal dysplasia with multiple dislocations. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).
Šemić A (2026). [PMID: 41959455](https://pubmed.ncbi.nlm.nih.gov/41959455/). *bioRxiv*. [Basic Science / Preclinical]
Zamanian Najafabadi S (2025). [PMID: 40751525](https://pubmed.ncbi.nlm.nih.gov/40751525/). *Arch Iran Med*. [Case Report / Case Series]
Bouchenafa R (2024). [PMID: 38646780](https://pubmed.ncbi.nlm.nih.gov/38646780/). *Am J Physiol Cell Physiol*. [Review / Meta-Analysis]
Kawaue H (2024). [PMID: 38989461](https://pubmed.ncbi.nlm.nih.gov/38989461/). *iScience*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:33 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center