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A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation.
Features include very common findings: Disproportionate short-limb short stature, Metaphyseal irregularity, and Platyspondyly; and common findings: Metaphyseal widening, Rhizomelia, Biconcave vertebral bodies, and Brachydactyly and others. 44 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 9 | Biconcave vertebral bodies, Flat capital femoral epiphysis, Narrow vertebral interpedicular distance |
Head and neck | 2 | Relative macrocephaly, Mandibular prognathia |
Brain and nerves | 2 | Intellectual disability, Depressed nasal bridge |
Growth and development | 1 | Disproportionate short-limb short stature |
Arms and legs | 1 | Disproportionate short-limb short stature |
Hormones | 1 | Congenital hypothyroidism |
Pregnancy and birth | 1 | Congenital hypothyroidism |
Eyes | 1 | Posterior subcapsular cataract |
Blood and immune system | 1 | Decreased total neutrophil count |
TONSL function has not been fully characterized.
Spondyloepimetaphyseal dysplasia, sponastrime type is associated with mutations in the TONSL gene on chromosome 8.
Genetic testing for TONSL is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 3 very common features, 7 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for spondyloepimetaphyseal dysplasia, sponastrime type.
6 publications have been identified in PubMed for spondyloepimetaphyseal dysplasia, sponastrime type. Research spans Case Report / Case Series (67%), Basic Science / Preclinical (17%), and Epidemiology / Natural History (17%).
Arponen H (2025). [PMID: 40122363](https://pubmed.ncbi.nlm.nih.gov/40122363/). *Bone*. [Case Report / Case Series]
Marti S (2025). [PMID: 40510848](https://pubmed.ncbi.nlm.nih.gov/40510848/). *Hemasphere*. [Basic Science / Preclinical]
Jacob P (2025). [PMID: 39706863](https://pubmed.ncbi.nlm.nih.gov/39706863/). *Eur J Hum Genet*. [Epidemiology / Natural History]
Yao M (2025). [PMID: 40794898](https://pubmed.ncbi.nlm.nih.gov/40794898/). *Hum Mol Genet*. [Case Report / Case Series]
Zhu L (2024). [PMID: 38684304](https://pubmed.ncbi.nlm.nih.gov/38684304/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Ozturk M (2024). [PMID: 38874671](https://pubmed.ncbi.nlm.nih.gov/38874671/). *Mol Biol Rep*. [Case Report / Case Series]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:54 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center