The 3 M syndrome

Abstract

3- M syndrome is an extremely rare autosomal recessive disorder with fewer than one hundred cases reported worldwide¹. It is characterized by prenatal and postnatal severe growth retardation, facial dysmorphism and skeletal deformities². It is distinct from other types of dwarfism by its facial features, proportionate arms and legs with typical slender long bones and foreshortened vertebral bodies³ . Mutations in any one of the following three genes: CUL7, OBSL1, and CCDC8 are responsible for accounting for this disorder. Diagnosis is mainly clinical, while genetic testing is used for confirmation of the mutation. Early diagnosis is important for timely intervention and genetic counselling