Septo-optic Dysplasia

Also known as: De Morsier’s syndrome

Overview

Septo-optic dysplasia (SOD) has three common features: abnormal development of structures separating right and left halves of the brain, hypoplasia (underdevelopment) of pituitary gland and optic nerves. The pituitary releases hormones (chemical messages) including growth hormone. Those affected may be short, have learning disability, neurological problems and impaired vision. Other pituitary hormones may be affected; those controlling puberty, thyroid stimulating hormone and ACTH, which stimulates release of the stress hormone cortisol and vasopressin that retains water in the body lack resulting in too much urine and dehydration. Diagnosis is based on features and brain imaging. Management may involve growth hormone replacement. Vision aids may be needed. Some rare forms of SOD have been associated with genetic mutations, but most are sporadic (no family history). Affected families should be referred to a genetics centre for information and support.

This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child’s case with a qualified medical professional who will be able to give you more detailed information.

Credits

Medical text approved November 2012 by Miss Isabelle Russell-Eggitt, Contact a Family Medical Advisory Panel.

Is there support?

There is no support group for Septo-optic dysplasia in the UK.

Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.