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Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for heart defects-limb shortening syndrome.
2 publications have been identified in PubMed for heart defects-limb shortening syndrome. Research spans Other (50%) and Case Report / Case Series (50%).
Reyes-Sotelo B (2025). [PMID: 41295696](https://pubmed.ncbi.nlm.nih.gov/41295696/). *Vet Sci*. [Other]
Nomura Y (2025). [PMID: 40697198](https://pubmed.ncbi.nlm.nih.gov/40697198/). *J Cardiol Cases*. [Case Report / Case Series]
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:09 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning heart defects-limb shortening syndrome
Updated Mar 4, 2026
A new study identifies MGRN1 as linked to recessive heart and laterality defects, marking the first genotype-phenotype report in humans. This discovery enhances understanding of the genetic basis for these conditions.
A large study reveals that overweight and obese women face an 18% higher risk of having babies with certain heart defects compared to those with normal BMI. This research underscores the importance of maternal health in preventing congenital heart conditions.
A CDC-funded study reveals that smoking early in pregnancy significantly increases the risk of heart defects in newborns. This finding underscores the importance of smoking cessation programs for expectant mothers.