Disease or Syndrome
septo-optic dysplasia
Subclass of:
Agenesis of corpus callosum;
Optic nerve hypoplasia
Also called:
de Morsier Syndrome
Definitions related to septo-optic dysplasia:
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A condition resulting from congenital malformations involving the brain. The syndrome of septo-optic dysplasia combines hypoplasia or agenesis of the SEPTUM PELLUCIDUM; CORPUS CALLOSUM and the OPTIC NERVE. The extent of the abnormalities can vary. Septo-optic dysplasia is often associated with abnormalities of the HYPOTHALAMUS and other diencephalic structures, and HYPOPITUITARISM.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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A genetically heterogenous syndrome that may be caused by mutation(s) in the HESX1, OTX2, and SOX2 genes, encoding homeobox expressed in ES cells 1, homeobox protein OTX2, and transcription factor SOX-2, respectively. Clinical features may include hypoplasia of the optic nerve(s), impaired vision, absence of the septum pellucidum, hypopituitarism, and behavior disturbances.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
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A very rare congenital syndrome characterized by hypoplasia of the optic nerve, impaired vision, absence of the septum pellucidum and hypopituitarism.NCI ThesaurusU.S. National Cancer Institute, 2021
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Underdevelopment of the optic nerve and absence of the septum pellucidum.Human Phenotype Ontology (HPO)The Human Phenotype Ontology Project, 2021
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Septo-optic dysplasia is a malformation of the front of the brain that occurs toward the end of the first month of gestation and includes optic nerve hypoplasia, absence of the septum pellucidum (the membrane that separates the front of the 2 lateral ventricles), and pituitary deficiencies.Merck & Co., Inc., 2020
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