Dysplasia, septo-optic

see De Morsier, syndrome

Septo-optic dysplasia is a heterogeneous combination of cerebral, endocrine and systemic malformations. De Morsier syndrome is only one form of it. 


Clinical findings:

-         dysmorphic features: large forehead, hypertelorism, small nose

-         macro - or microcephaly; sometimes cleft lip palate or median facial cleft

-         ocular: nystagmus, coloboma, microphthalmia, retinal abnormalities

-         endocrine problems: panhypopituitarism or isolated deficiency in one or another hormone

-         genital anomalies

-         small hands and  feet, sometimes contractures

-         psychomotor retardation, sometimes epilepsy

-         MRI: hypoplasia of the optic nerve, total or partial absence of the septum pellucidum and the corpus callosum, abnormalities  of the white matter, ventriculomegaly, sometimes holoprosencephaly.


Anesthetic implications: 

according to the associated anomalies ; check the endocrine status


Updated: July 2019