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NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.
Features include always present findings: Pulmonary hypoplasia, Short long bone, Talipes equinovarus, and Short neck; and common findings: Long philtrum, Ventricular septal defect, Hypoplasia of the thymus, and Narrow chest and others. 30 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 3 | Femoral bowing, Short long bone, Thoracic scoliosis |
NEK9 encodes NIMA related kinase 9 (979 aa). Pleiotropic regulator of mitotic progression, participating in the control of spindle dynamics and chromosome separation. Highest expression in Ovary (75.5 TPM) and Fallopian Tube (70.1 TPM).
NEK9-related lethal skeletal dysplasia is associated with mutations in the NEK9 gene on chromosome 14.
The NEK9 protein participates in p-3S,2T-NEK9: p-S206-NEK6/ p-S195-NEK7 pathway.
NEK9 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, and Transporter categories) with score 0.0.
Genetic testing for NEK9 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features, 14 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for NEK9-related lethal skeletal dysplasia.
2 publications have been identified in PubMed for NEK9-related lethal skeletal dysplasia. Kisho has analyzed 1 by research type. Research spans Review / Meta-Analysis (100%).
Roig J (2025). [PMID: 40189576](https://pubmed.ncbi.nlm.nih.gov/40189576/). *Cell Commun Signal*. [Review / Meta-Analysis]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:01 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about NEK9-related lethal skeletal dysplasia
Head and neck |
2 |
Narrow palate, High palate |
Heart and blood vessels | 2 | Ventricular septal defect, Enlarged heart (cardiomegaly) |
Pregnancy and birth | 2 | Hydrops fetalis, Fetal akinesia sequence |
Lungs and breathing | 1 | Pulmonary hypoplasia |
Arms and legs | 1 | Overlapping fingers |
Growth and development | 1 | Intrauterine growth retardation |
Muscles | 1 | Increased variability in muscle fiber diameter |
AI-curated news mentioning NEK9-related lethal skeletal dysplasia
Updated Feb 14, 2026
An erratum has been published for the study on fetal skeletal dysplasia in China, correcting previous insights and clinical benefits reported. This highlights the ongoing research and the importance of accurate data in understanding this rare condition.