Spherophakia brachymorphia syndrome
Overview
Spherophakia brachymorphia syndrome: A rare genetic disorder characterized by short stature, and craniofacial, eye, tooth and limb abnormalities.
Symptoms
Small stature Broad skull Small orbits Shallow orbits Mild maxillary hypoplasia
Causes
Marfan syndrome is inherited as an autosomal dominant trait of chromosome 15. It's caused by mutations in gene fibrillin-1, producing changes in elastic tissues, especially of the aorta, eye, and skin. Mutations of fibrillin-1 also cause overgrowth of long bones. In 85% of patients with this disease, the family history confirms Marfan syndrome in one parent as well. In the remaining 15%, a negative family history suggests a fresh mutation, possibly from advanced paternal age.