Donnai Barrow syndrome
Donnai Barrow Syndrome (pronounced: don-nai bar-row syn-drome) is a rare genetic disorder characterized by distinctive facial features, hearing loss, and eye abnormalities.
Etymology
The syndrome is named after the British pediatricians, Dr. Dian Donnai and Dr. Margaret Barrow, who first described the condition in 1993.
Symptoms
The most common symptoms of Donnai Barrow Syndrome include facial dysmorphism, hearing loss, and eye abnormalities. Other symptoms may include diaphragmatic hernia, omphalocele, and agenesis of the corpus callosum.
Causes
Donnai Barrow Syndrome is caused by mutations in the LRP2 gene. This gene provides instructions for making a protein that is involved in the development of several parts of the body, including the eyes, ears, and brain.
Diagnosis
Diagnosis of Donnai Barrow Syndrome is based on clinical examination and genetic testing. The genetic test involves sequencing the LRP2 gene to identify any mutations.
Treatment
There is currently no cure for Donnai Barrow Syndrome. Treatment is symptomatic and supportive, and may include surgery for diaphragmatic hernia or omphalocele, hearing aids for hearing loss, and glasses or contact lenses for eye abnormalities.
Prognosis
The prognosis for individuals with Donnai Barrow Syndrome varies depending on the severity of the symptoms. With appropriate treatment and management, many individuals with this condition can lead a normal life.
See also
External links
- Medical encyclopedia article on Donnai Barrow syndrome
- Wikipedia's article - Donnai Barrow syndrome
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