Disease Information for Septo-optic Dysplasia (DeMorsier)

Ads
Clinical Manifestations
Signs & Symptoms
Delayed adolescence/secondary sex changes
Delayed female adolescence
Delayed male adolescence/pubescence
Genital Hypoplasia/Male
Penis, small (Micropenis)
Hypotonia
Delayed speech/language development
Development Motor Skills (Milestones) Delayed
Developmental milestones delayed
Mental Deficiency Child
Mental/motor retardation in children/signs
Nystagmus
Seizures
Slow Motor Development
Psychomotor retardation
Dysmorphic dwarfism/short stature
Short stature
Short stature Child
Hypoplastic Optic Discs
True Vertigo Sign Confirmed
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
Diagnostic Test Results
CT Scan
CT Scan/Head Brain/Corpus callosum hypoplasia/agenesis
MRI/Head Brain Abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Blindness
Blindness in Children
Congenital anomalies
Congenital eye disease/eye anomalies
Congenital Nystagmus
Corpus callosum defect/agenesis
Dwarfism
Dwarfism, pituitary
Dwarfism/acquired
Mental retardation
Nanism/dwarfism
Neurodevelopmental disorders
Panhypopituitarism
Pituitary hypothyroidism
Seizure disorder (epilepsy)
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Pituitary gland involvement/disorder (ex)
Pathophysiology
Pathophysiology/Absent septum pellucidum/pituitary/optic nerves
Pathophysiology/Dysplasia CNS/midline/eyes/hypothalamus
Pathophysiology/Absent growth hormone releasing factor
Pathophysiology/Corpus callosum defect
Pathophysiology/Forebrain hypoplasia
Pathophysiology/Hypoplasia optic tracts/chiasm
Pathophysiology/CTSA (Cathepsin A) Gene Mutation
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
Synonyms
Synonym
dysplasia septo optic, Septo optic dysplasia, Septo optic dysplasia sequence, Septo optic dysplasia sequence (disorder), Synonym/DeMorsier syndrome, Synonym/DeMorsier's Syndrome, Synonym/SOD syndrome
Definition

Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain); Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems; Seizures may also occur; In a few cases, jaundice (prolonged yellow skin discoloration) may occur at birth; Intellectual problems vary in severity among individuals; While some children with SOD have normal intelligence, others have learning disabilities and mental retardation; Most, however, are developmentally delayed due to vision impairment or neurological problems;

Treatment for SOD is symptomatic; Hormone deficiencies may be treated with hormone replacement therapy; The optical problems associated with SOD are generally not treatable; Vision, physical, and occupational therapies may be required; --------------[NINDS/NIH 2007]---------------

Septooptic dysplasia is a disorder that results from incomplete development of the forebrain and pituitary gland; This condition is characterized by underdevelopment (hypoplasia) of the optic nerves that transmit impulses from the nerve-rich membranes lining the retina of the eye to the brain; abnormalities of midline structures of the brain such as the septum pellucidum and corpus callosum; and diminished activity of the pituitary gland, the hormone-producing gland at the base of the brain; Most people with septooptic dysplasia have abnormal eye movements (nystagmus) and some affected individuals have partial or complete blindness in one or both eyes; Some affected children have normal intelligence and others have learning disabilities and mental retardation; Deficiencies of certain hormones result in growth retardation and short stature; The cause of septooptic dysplasia is not fully understood; Most cases are thought to occur randomly for unknown reasons (sporadic), but some families have been reported with more than one affected child, suggesting autosomal recessive inheritance; ----------[NORD 2007]-------------

(Edit)

External Links Related to Septo-optic Dysplasia (DeMorsier)
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
Ads