What is Galloway-Mowat syndrome?
Galloway-Mowat syndrome, which is also known by the name of microcephaly-hiatal hernia-nephrotic syndrome, is an extremely rare genetic disorder that as stated is characterized by numerous physical and developmental anomalies. Some of the physical anomalies include unusually small head or microcephaly. There is also damage to capillaries in kidneys causing a medical condition called focal glomerulosclerosis resulting in kidney dysfunction. There is also presence of hiatal hernia. Other abnormalities include brain malformations, epilepsy, generalized hypotonia, and hyperreflexia. Children affected with Galloway-Mowat syndrome may have developmental anomalies to include inadequate motor skills and delayed developmental milestones.
How common is Galloway-Mowat syndrome?
Galloway-Mowat syndrome is extremely uncommon. Please discuss with your doctor for further information.
What are the symptoms of Galloway-Mowat syndrome?
The common symptoms of Galloway-Mowat syndrome are:
- Unusually small head
- Unusually large ears
- Frequent vomiting
- Impaired kidney function
- Hiatal hernia
- Brain anomalies
- Delayed motor development
- Psychomotor retardation
There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.
When should I see my doctor?
If you or your loved one has any signs or symptoms listed above or any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.
What causes Galloway-Mowat syndrome?
Galloway-Mowat syndrome as stated is a rare genetic autosomal recessive condition which means that the disease can be inherited only if the defective genes from both parents are present in the offspring. In case if only one gene is inherited than that individual will be called as a carrier of the disease but will not have any symptoms.
What increases my risk for Galloway-Mowat syndrome?
Please consult with your doctor for further information.
Diagnosis & treatment
The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.
How is Galloway-Mowat syndrome diagnosed?
Galloway-Mowat syndrome can be diagnosed immediately after birth through a physical evaluation which will clearly reveal the above mentioned physical anomalies. Apart from this, specialized lab tests, imaging studies, and genetic testing can also be done, especially if the parents are carriers of this disease.
How is Galloway-Mowat syndrome treated?
The mainstay of treatment for Galloway-Mowat syndrome is controlling the symptoms which are quite profound in the affected individual. Treatment may require coordinated efforts of specialists like pediatricians, nephrologists, gastroenterologists, neurologists, surgeons, physical therapists etc.
Nephrotic syndrome associated with Galloway-Mowat syndrome is usually treated with low-sodium diet along with low levels of protein. Edema which is observed in nephrotic syndrome due to Galloway-Mowat syndrome can be treated with diuretics. Antibiotics can also be used to fight infections. In instances where there is presence of kidney failure, dialysis is done for removal of waste products from the body.
In cases of infants with Galloway-Mowat syndrome who start having seizures, anticonvulsant medications are given but the type of anticonvulsant to be used needs to determined by the treating specialists as the affected people are also on other medications for other medical conditions contraindicating use of certain medications.
Genetic counseling is imperative for families of children suffering from Galloway-Mowat Syndrome.
Lifestyle changes & home remedies
What are some lifestyle changes or home remedies that can help me manage Galloway-Mowat syndrome?
If you have any questions, please consult with your doctor to better understand the best solution for you.
Hello Health Group does not provide medical advice, diagnosis or treatment.
Review Date: January 29, 2018 | Last Modified: January 29, 2018
Galloway-Mowat Syndrome: Causes, Symptoms, Diagnosis, Treatment https://www.epainassist.com/genetic-disorders/galloway-mowat-syndrome Accessed January 29, 2018
Galloway-Mowat Syndrome https://rarediseases.org/rare-diseases/galloway-mowat-syndrome/ Accessed January 29, 2018