Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology
Topic overview
This registry study examines rare co-occurrence of congenital diaphragmatic hernia and cleft lip/palate (0.7% prevalence), identifying associated genetic abnormalities including trisomy 13, 8p23.1 deletion, and Wolf-Hirschhorn syndrome. Patients with both conditions had significantly worse outcomes than isolated CDH, with fourfold higher early mortality and lower surgical repair rates.
Key takeaways
- CDH with cleft lip/palate is rare (0.7% prevalence) and associated with specific genetic anomalies including trisomy 13, 8p23.1 deletion, and Wolf-Hirschhorn syndrome.
- Patients with combined CDH+CL/P have significantly lower survival rates and nearly fourfold higher risk of death within 7 days compared to isolated CDH.
- CDH+CL/P patients receive less ECLS support and have higher non-repair rates, likely influenced by goals of care discussions given poor prognosis.
- Survivors with CDH+CL/P experience longer hospital stays, reflecting increased complexity of care for this dual-anomaly population.
- Genetic testing should be prioritized in CDH patients presenting with orofacial clefts to identify underlying chromosomal abnormalities and guide counseling.
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How to cite: GlobalCastMD. Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology. GlobalCastMD Medical Library. 2024-10-01. https://dev.library.globalcastmd.com/article/9226?via_space=staycurrentmd
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