Septooptic Dysplasia

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Septooptic Dysplasia

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Nystagmus
  • Cryptorchidism
  • Visual impairment
  • Fever
  • Talipes equinovarus

And another 42 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Septooptic Dysplasia Is also known as de morsier syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Septooptic Dysplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
50 %
Septooptic Dysplasia.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

HESX1
Specificity
100 %
Genes
50 %
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
50 %
Septo-Optic Dysplasia and Schizencephaly.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SHH, SIX3, SOX2, COL4A1, EMX2, HESX1
Specificity
17 %
Genes
50 %
HESX1 Gene Sequencing.

By GeneDx (United States).

HESX1
Specificity
100 %
Genes
50 %
HESX1 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

HESX1
Specificity
100 %
Genes
50 %
HESX1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

HESX1
Specificity
100 %
Genes
50 %
Pituitary hormone deficiency, combined 5 (sequence analysis of HESX1 gene).

By CGC Genetics (Portugal).

HESX1
Specificity
100 %
Genes
50 %

We have 115 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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