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Aetiology

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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This is unknown in the majority of cases. Multifactorial inheritance is the most frequently identified cause for major malformations followed by monogenic and chromosomal disorders.

Chromosomal imbalance, the deletion and duplication of autosomes, and over 250 single gene disorders are associated with major congenital malformations. It is vital to recognise these conditions so that family counselling can take place.

Maternal illnesses contribute to approximately 3% of all major congenital malformations. Maternal diabetes, and especially the quality of its control, epilepsy and phenylketonuria are all renowned in this respect.

Drugs, X-ray radiation and alcohol make only a minimal 1% contribution to major malformations at birth.


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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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