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.
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
References in periodicals archive ?
The specific diagnosis of those among the nonexposed group were congenital malformation of corpus callosum (9%; 81/943), holoprosencephaly (24%; 225/943), and septooptic dysplasia (0.6%; 6/943).
In the neonatal period it may be associated with midline brain anatomic abnormalities such as septooptic dysplasia with agenesis of the corpus callosum, Kabuki syndrome, holoprosencephaly, and familial pituitary hypoplasia with absent stalk [1-4].
The anatomical recognition of this variant becomes important for the occurrence of saccular aneurysms, relatively common (13-71%), associated malformations (dysgenesis of the corpus callosum, lobar holoprosencephaly, septooptic dysplasia, porencephalic cysts, and arteriovenous malformations), and presence of bifrontal infarctions in case of occlusion [1].
The patient was a 17-year-old boy with hypopituitarism, autism, and a history of septooptic dysplasia with whom communication was difficult.
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
His Twitter account also received a barrage of negative comments, with users asking: "What the f*** have you done to that poor kid!?" Harvey was born with septooptic dysplasia, which has left him with residual vision, allowing him to see only some shapes and colours.
He suffers from a septooptic dysplasia which means he is partially blind and requires around-the-clock care.