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
Farlex Partner Medical Dictionary © Farlex 2012
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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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.
Synonym(s): de Morsier syndrome.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
de Morsier,
G., 20th century Swiss neurologist.de Morsier syndrome - congenital optic nerve hypoplasia associated with midline cerebral anomalies. Synonym(s): septooptic dysplasia
Medical Eponyms © Farlex 2012
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.
Medical Dictionary for the Dental Professions © Farlex 2012