Septo-Optic DysplasiaSymptoms, Doctors, Treatments, Advances & More
Learn About Septo-Optic Dysplasia
Septo-optic dysplasia is a disorder that affects early brain development. This condition is typically defined as a combination of at least two of the following three features: underdevelopment (hypoplasia) of the nerves that carry visual information from the eye to the brain (optic nerves); abnormal development of the structures that separate the right and left halves (the midline) of the brain; and hypoplasia of the hormone-producing gland (pituitary gland) at the base of the brain. The signs and symptoms of septo-optic dysplasia can vary widely among affected individuals. Less than half of people with septo-optic dysplasia have all three of the main features.
In most cases of septo-optic dysplasia, the cause of the disorder is unknown. Researchers suspect that a combination of genetic and environmental factors play a role in causing this disorder. Septo-optic dysplasia is more common in children born to young women who are pregnant for the first time. Children also have an increased risk of septo-optic dysplasia if they were exposed to alcohol or specific medications or drugs before birth, or if their mothers had certain viral infections while pregnant. A disruption in blood flow to certain areas of the brain during critical periods of development may also increase the risk of septo-optic dysplasia.
Septo-optic dysplasia affects approximately 1 in 10,000 newborns.
Septo-optic dysplasia is usually sporadic, which means that the condition typically occurs in people with no history of the disorder in their family.
St. Christopher's Pediatric Associates Endocrinology - E. Erie Avenue
Rita Kubicky is a Pediatric Endocrinologist practicing medicine in Philadelphia, Pennsylvania. Dr. Kubicky is rated as an Advanced provider by MediFind in the treatment of Septo-Optic Dysplasia. She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses Type A Insulin Resistance Syndrome, Acanthosis Nigricans, Albright's Hereditary Osteodystrophy, and Pseudohypoparathyroidism. Dr. Kubicky is board certified in American Board Of Pediatrics.
Louise Gregory practices practicing medicine in London, United Kingdom. Ms. Gregory is rated as an Elite expert by MediFind in the treatment of Septo-Optic Dysplasia. She is also highly rated in 22 other conditions, according to our data. Her clinical expertise encompasses Familial Hypopituitarism, Hypopituitarism, Septo-Optic Dysplasia, and Cardiofaciocutaneous Syndrome.
Mehul Dattani practices practicing medicine in London, United Kingdom. Mr. Dattani is rated as an Elite expert by MediFind in the treatment of Septo-Optic Dysplasia. He is also highly rated in 48 other conditions, according to our data. His clinical expertise encompasses Septo-Optic Dysplasia, Hypopituitarism, Growth Hormone Deficiency (GHD), Hormone Replacement Therapy (HRT), and Pancreatectomy.
Summary: This is a sub-study of Study RM-493-040 (NCT05774756). The goal of this sub-study is to learn how well Setmelanotide works to improve weight reduction, hunger, and quality of life in patients 4 years of age and older with congenital Hypothalamic Obesity (cHO). To determine how well setmelanotide works and how safe it is, patients with cHO will take a daily injection of either setmelanotide or plac...
Published Date: May 07, 2025
Published By: National Institutes of Health