GTR Home > Conditions/Phenotypes > Septo-optic dysplasia sequence

Summary

Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010). Also see 516020.0012 for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance. [from OMIM]

Available tests

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Associated genes

Clinical features

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  • Strabismus
  • Short finger
  • Short stature
  • Hypohidrosis
  • Optic disc hypoplasia
  • Agenesis of corpus callosum
  • Optic nerve hypoplasia
  • Cognitive impairment
  • Anterior pituitary hypoplasia
  • Seizures
  • Constipation
  • Dry skin
  • Nystagmus
  • Obesity
  • Polydactyly
  • Cleft palate
  • Cryptorchidism
  • Sensorineural hearing impairment
  • Visual impairment
  • Optic atrophy
  • Autism
  • Growth hormone deficiency
  • Anterior hypopituitarism
  • Diabetes insipidus
  • Global developmental delay
  • Absent septum pellucidum
  • Sleep disturbance
  • Malformation of the heart and great vessels
  • Tracheoesophageal fistula
  • Hemiplegia/hemiparesis
  • Abnormality of the sense of smell
  • Aplasia/Hypoplasia of the cerebellum
  • Aplasia/Hypoplasia of the corpus callosum
  • Hypoplasia of penis
  • Maternal diabetes
  • Septo-optic dysplasia
  • Abnormal renal physiology
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