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Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.
Biomarker and diagnostic research for lethal Kniest-like dysplasia has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for lethal Kniest-like dysplasia.
2 publications have been identified in PubMed for lethal Kniest-like dysplasia. Research spans Diagnostic / Biomarker (50%) and Review / Meta-Analysis (50%).
Yeter B (2025). [PMID: 39849673](https://pubmed.ncbi.nlm.nih.gov/39849673/). *J Clin Res Pediatr Endocrinol*. [Diagnostic / Biomarker]
Tsirikos AI (2025). [PMID: 40900855](https://pubmed.ncbi.nlm.nih.gov/40900855/). *World J Methodol*. [Review / Meta-Analysis]
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 11:43 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center