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

septooptic dysplasia

[sep′tō·op′tik dis·plā′zhə]

a congenital syndrome of hypoplasia of the optic disc with other ocular abnormalities, absence of the septum pellucidum, and hypopituitarism leading to growth deficiency. Also called de Morsier's 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.