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Donnai Barrow Syndrome

Samantha LaBrecque

Brown

Biology, P6

  • Donnai-Barrow is a genetic disorder.
  • In almost all cases, the parents of an individual with this type of an inherited disease each carry one copy of the mutated gene but typically do not show signs and symptoms of the condition.
  • This condition is inherited in an autosomal recessive pattern. This means both copies of the gene in each cell has the mutation.

. It’s often detected by abnormal facial features such as wide set eyes, a short round nose with a flat nasal bridge, rotated ears, and a widow’s peak hairline.

  • Those with Donnai-Barrow Syndrome suffer from sever hearing loss due to the abnormalities of the inner ear, high myopia (severe nearsightedness) and progressive vision loss. Others have iris coloboma, a split or a drooped iris.
  • People with DBS might also have a hole in the diaphragm. This is called a diaphragmatic hernia, it is a serious birth defect that allows the intestines and stomach to move into the chest and possibly crowd the developing heart and lungs.

Other Pictures Of Donnai-Barrow Syndrome

Citation

Causes

  • http://www.ncbi.nlm.nih.gov/books/NBK1878/
  • http://disorders.eyes.arizona.edu/disorders/donnai-barrow-syndrome

http://ghr.nlm.nih.gov/condition/donnai-barrow-syndrome

  • http://rarediseases.info.nih.gov/GARD/Condition/1899/Donnai_Barrow_syndrome.aspx
  • http://www.checkorphan.org/disease/donnai-barrow-syndrome

Symptoms

Treatments

  • Treatments can vary. It all depends on the surgery needed at the time; such as cataract and retinal detachment surgery. Patients suffering from DBS need to be monitored throughout life for retinal disease, Omphaloceles and diaphragmatic hernias. Hearing aids may also be beneficial.

Statistics

  • Donnai-Barrow is a fairly rare disease.

Only about a dozen cases have been

reported world wide.

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