Septo-optic dysplasia spectrum

Disease Overview

Septo-optic dysplasia is a disorder of early brain and eye development. The most common features are underdevelopment (hypoplasia) of the eye (optic) nerve, abnormal formation of structures along the midline of the brain such as the absence of the septum pellucidum and the corpus callosum, and a small pituitary (pituitary hypoplasia). Signs and symptoms may include blindness in one or both eyes,  an abnormal pupil dilation in response to light, nystagmus (abnormal movement of the eyes), low muscular tone and hormonal problems. Additional features may include recurring seizures, delayed development, intellectual disability, jaundice (yellow-ish skin), precocious puberty, short stature, sleep problems, obesity, lack of smell (anosmia), hearing loss and heart anomalies.[2463][14789][12966]

Although the cause is unknown in most cases, very few people with SOD may have variations (mutations) in the HESX1 OTX2,  SOX2 or SOX3 genes.[2463][14790] Other factors that may be involved are viral infections, certain medications and a blood flow disruption.[2463][14790][14792] Typically, people do not have a family history of septo-optic dysplasia. However, there have been a few cases in which multiple family members have been diagnosed. In these cases inheritance can be  autosomal recessive or autosomal dominant.[2463][12966] Although there is no cure for this condition, the treatment is directed toward the specific symptoms in each individual. Children with possible SOD must be kept under careful hormonal follow-up, and, if present, hormone deficiencies should be treated with hormone replacement therapy.[12966][14790]

Synonyms

• Septooptic dysplasia
• De morsier syndrome
• Septo-optic dysplasia with growth hormone deficiency
• Hypopituitarism and septooptic 'dysplasia'
• SOD
• Septo-optic dysplasia