Definition

It is a rare condition related with a variety of disease and symptoms like Pectus excavatum, macrocephaly and dysplastic nails, familial short stature, delay in development and distinctive facies. The name of the syndrome came from the researchers who first described and determined the syndrome and its clinical signs. It is also believed that the syndrome is inherited in a pattern known as autosomal dominant and there are no new researches regarding this disease.

Diagnosis

Common symptoms are deformity of the chest, pectus excavatum, deformity of the head, dysplastic nails, developmental delay and mental retardation.

Treatment



Symptoms



Causes