Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome

Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome

Article
Ear, Nose, & Throat (ENT)
Brain & Nerve
+7
Contributed byKrish Tangella MD, MBAJan 20, 2022

The topic Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome you are seeking is a synonym, or alternative name, or is closely related to the medical condition Donnai-Barrow Syndrome.

Quick Summary:

  • Donnai-Barrow Syndrome (DBS) is a multi-system genetic disorder. The syndrome is caused by mutation(s) in the LRP2 gene, which is located on chromosome 2
    • Under normal circumstances, the gene codes for a functional protein called megalin, which is a membrane protein involved in the development and function of various organs, as well as stress response, immune response and vitamins A and D absorption
    • In Donnai-Barrow Syndrome, the mutated LRP2 gene leads to a non-functional megalin protein, which does not allow crucial cellular signaling processes to take place. This probably results in the symptoms observed in the disorder
  • It has been reported that children born to parents who are close relatives (such as first cousins) and those with a family history of the disorder are at increased risk of developing Donnai-Barrow Syndrome
  • The disorder is inherited in an autosomal recessive pattern. In this type of inheritance, an individual must have two defective copies of the causative gene in each of his/her cell for the disorder to manifest itself
  • The signs and symptoms of Donnai-Barrow Syndrome include structural abnormalities in the brain, characteristic facial features (prominet forehead, protruding eyes, and broad nasal bridge), seizures, intellectual disability, hearing loss, and defects in diaphragm, among many others. Miscarriage at the prenatal stage is a potential complication. After birth, progressive vision and hearing loss are possible
  • Treatment of Donnai-Barrow Syndrome for various symptoms depends on their severity. Typically, structural deformities, such as a hole in the diaphragm, are corrected through surgery. Corrective lenses and cochlear implants for impaired vision and hearing respectively, medication for seizures and special education may be required for normal development of the affected individual
  • When the symptoms are severe and are apparent before birth, the prognosis of Donnai-Barrow Syndrome is guarded. If the child can tolerate corrective surgeries during early infancy, he/she is reported to have reasonably good health in childhood and adolescence with careful monitoring of the condition

Please find comprehensive information on Donnai-Barrow Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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