Septo-optic dysplasia

Also known as: De Morsier syndrome

Optic nerve hypoplasia with midline brain defects and hypopituitarism.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: HESX1, OTX2, PAX6, SOX2, SOX3

Etiology & mechanism

Early forebrain developmental defects.

Gene(s) involved (5)

HESX1OTX2PAX6SOX2SOX3

Symptoms & signs (8)

absent septum pellucidumgrowth hormone deficiencyhypoglycemiahypothyroidismneonatal jaundicenystagmusoptic nerve hypoplasiapoor vision

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