septooptic dysplasia

sep·to·op·tic dys·pla·si·a

[MIM*182230] congenital optic nerve hypoplasia associated with midline cerebral anomalies. Synonym(s): de Morsier syndrome

septo optic dysplasia

A rare autosomal recessive condition (OMIM:182230) characterised by optic nerve hypoplasia, absence of the corpus callosum, and hypoplasia of the pituitary gland with panhypopopituitarism.
Molecular pathology
Defects in HESX1, a DNA-binding transcription factor required for the normal development of the forebrain, eyes and other anterior structures, cause septo optic dysplasia.

sep·to·op·tic dys·pla·si·a

(sep'tō-op'tik dis-plā'zē-ă) Congenital, bilateral optic nerve hypoplasia associated with midline cerebral anomalies.
Synonym(s): de Morsier syndrome.

de Morsier,

G., 20th century Swiss neurologist. de Morsier syndrome - congenital optic nerve hypoplasia associated with midline cerebral anomalies. Synonym(s): septooptic dysplasia

sep·to·op·tic dys·pla·si·a

(sep'tō-op'tik dis-plā'zē-ă) [MIM*182230] Congenital optic nerve hypoplasia associated with midline cerebral anomalies.

单词	septooptic dysplasia
释义	septooptic dysplasia sep·to·op·tic dys·pla·si·a [MIM182230] congenital optic nerve hypoplasia associated with midline cerebral anomalies. Synonym(s): de Morsier syndrome septo optic dysplasia A rare autosomal recessive condition (OMIM:182230) characterised by optic nerve hypoplasia, absence of the corpus callosum, and hypoplasia of the pituitary gland with panhypopopituitarism. Molecular pathology Defects in HESX1, a DNA-binding transcription factor required for the normal development of the forebrain, eyes and other anterior structures, cause septo optic dysplasia. sep·to·op·tic dys·pla·si·a (sep'tō-op'tik dis-plā'zē-ă) Congenital, bilateral optic nerve hypoplasia associated with midline cerebral anomalies. Synonym(s): de Morsier syndrome. de Morsier, G., 20th century Swiss neurologist. de Morsier syndrome* - congenital optic nerve hypoplasia associated with midline cerebral anomalies. Synonym(s): septooptic dysplasia sep·to·op·tic dys·pla·si·a (sep'tō-op'tik dis-plā'zē-ă) [MIM*182230] Congenital optic nerve hypoplasia associated with midline cerebral anomalies.
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