Meier-Gorlin Syndrome 7
Autosomal recessive
Caused by changes in both copies of CDC45, which is needed to start copying DNA before a cell divides. These changes disrupt DNA replication, which is thought to contribute to the growth problems.
Signs and symptoms
Short stature, small ears and small or absent kneecaps are typical of Meier-Gorlin syndrome. Craniosynostosis (early fusion of skull bones) is characteristic of CDC45 changes, and anorectal malformation has also been reported. Some people lack the ear or kneecap features, and genital abnormalities occur in the wider condition.
What a diagnosis changes
Growth and feeding support, craniofacial assessment and surgery for craniosynostosis where needed, with orthopaedic review of the knees. Genetic counselling explains the recessive inheritance, and carrier testing is available for relatives.
Genes analysed
Also known as
CDC45 Meier-Gorlin syndrome; Meier-Gorlin syndrome 7; MGORS7; Meier-Gorlin syndrome caused by mutation in CDC45; Meier-Gorlin syndrome type 7; MGORS7
