3M syndrome

3M syndrome is a rare, autosomal recessive disorder whose main features are stunted growth, conspicuous head and face shape, narrow and elongated bones and ribs, and shortened vertebral bodies.

Cranial symptoms, such as the development of the triangular face and anomalies of the eyebrows, lips and chin, develop in the womb during pregnancy. Later in childhood, such symptoms as changes in the chest, vertebrae, joints, neck and the abdomen occur.

The cause of the syndrome is a genetic defect that causes mutations in the CUL7 gene.