Marshall syndrome

Marshall Syndrome is a multisystemic disease. Characteristic symptoms are sensorineural deafness, craniofacial anomalies, ocular abnormalities and anhidrotic ectodermal dysplasia.

Patients suffer from short stature, facial dysmorphism and are brachycephalic. Their upper incisors are usually stronger. In addition to sensory anomalies, sufferers have thicker skull bones, intracranial calcifications, and abnormal sinuses.

After the fourth or fifth decade of life, osteoarthritic problems with the knees and lumbar spine may occur.

The reason for the syndrome are mutations in the COL11A1 gene.