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A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for McDonough syndrome.
2 publications have been identified in PubMed for McDonough syndrome. Kisho has analyzed 1 by research type. Research spans Other (100%).
Bhavani SV (2024). [PMID: 39382693](https://pubmed.ncbi.nlm.nih.gov/39382693/). *Intensive Care Med*. [Other]
Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 10:42 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about McDonough syndrome