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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Septo-optic dysplasia


Other Names for this Disease

  • De morsier syndrome
  • Hypopituitarism and septooptic 'dysplasia'
  • Septo-optic dysplasia with growth hormone deficiency
  • Septooptic dysplasia
  • SOD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What symptoms are associated with septo-optic dysplasia?

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 leading to slow growth, unusually short stature, low blood sugar, genital abnormalities and problems with sexual development.[1][2] 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 septo-optic dysplasia have normal intelligence, others have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems.[2]
Last updated: 7/13/2012

The Human Phenotype Ontology provides the following list of signs and symptoms for Septo-optic dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Optic atrophy 90%
Septo-optic dysplasia 90%
Visual impairment 90%
Anterior hypopituitarism 50%
Aplasia/Hypoplasia of the corpus callosum 50%
Cleft palate 50%
Cryptorchidism 50%
Hemiplegia/hemiparesis 50%
Hypoplasia of penis 50%
Nystagmus 50%
Seizures 50%
Short stature 50%
Strabismus 50%
Abnormal renal physiology 7.5%
Abnormality of the sense of smell 7.5%
Aplasia/Hypoplasia of the cerebellum 7.5%
Autism 7.5%
Cognitive impairment 7.5%
Constipation 7.5%
Diabetes insipidus 7.5%
Dry skin 7.5%
Hypohidrosis 7.5%
Malformation of the heart and great vessels 7.5%
Maternal diabetes 7.5%
Obesity 7.5%
Sensorineural hearing impairment 7.5%
Sleep disturbance 7.5%
Tracheoesophageal fistula 7.5%
Absent septum pellucidum -
Agenesis of corpus callosum -
Anterior pituitary hypoplasia -
Autosomal dominant inheritance -
Autosomal recessive inheritance -
Growth hormone deficiency -
Optic disc hypoplasia -
Optic nerve hypoplasia -
Phenotypic variability -
Polydactyly -
Short finger -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Septo-optic dysplasia. Genetics Home Reference. March 2010; http://ghr.nlm.nih.gov/condition/septo-optic-dysplasia. Accessed 7/13/2012.
  2. NINDS Septo-Optic Dysplasia Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2008; http://www.ninds.nih.gov/disorders/septo_optic_dysplasia/septo_optic_dysplasia.htm. Accessed 7/13/2012.


Other Names for this Disease
  • De morsier syndrome
  • Hypopituitarism and septooptic 'dysplasia'
  • Septo-optic dysplasia with growth hormone deficiency
  • Septooptic dysplasia
  • SOD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.