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Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome.
2 publications have been identified in PubMed for obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome. Research spans Review / Meta-Analysis (100%).
Jeon YJ (2026). [PMID: 41486281](https://pubmed.ncbi.nlm.nih.gov/41486281/). *Signal Transduct Target Ther*. [Review / Meta-Analysis]
Sun N (2024). [PMID: 39370939](https://pubmed.ncbi.nlm.nih.gov/39370939/). *Allergy*. [Review / Meta-Analysis]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:35 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
AI-curated news mentioning obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
Updated Feb 25, 2026
Research identifies TMC6 as a novel therapeutic target for pathogenic cardiac hypertrophy, potentially opening new avenues for treatment. This discovery could lead to innovative strategies in managing this condition.