Galloway-Mowat Syndrome: Causes, Symptoms, Diagnosis, Treatment

Galloway-Mowat Syndrome– This is an extremely rare autosomal recessive genetic disorder which is characterized by an unusually small head, presence of hiatal hernia, renal dysfunction etc. Since this condition is autosomal recessive hence the defective gene needs to be inherited from both parents.

Galloway-Mowat Syndrome

In this article, we will discuss in detail about:

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.

Causes of Galloway-Mowat Syndrome

Galloway-Mowat Syndrome as stated is a rare genetic condition which is autosomal recessive 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.

Symptoms Of Galloway-Mowat Syndrome

  • Unusually small head
  • Unusually large ears
  • Frequent vomiting
  • Impaired kidney function
  • Hiatal hernia
  • Brain anomalies
  • Seizures
  • Hypotonia
  • Hyperreflexia
  • Delayed motor development
  • Psychomotor retardation

Diagnosis of Galloway-Mowat Syndrome

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.

Treatment For Galloway-Mowat Syndrome

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.

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:December 6, 2018

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