Living with Galloway-Mowat syndrome
A rare nervous system condition that involves a small head, developmental delay, seizures, and kidney problems.
Understanding Galloway-Mowat syndrome
Signs may include a small head size (microcephaly), developmental delay, seizures, kidney disease (nephrotic syndrome), hiatal hernia, optic atrophy, movement disorders, and intellectual disability. Other physical differences may also be present. Symptoms may begin from birth through childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head size (microcephaly)
- Delays in overall development
- Seizures
- Kidney problems, including nephrotic syndrome
- Short stature
- Hiatal hernia (stomach pushes up into the chest)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with American Association of Kidney Patients and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It may be caused by changes in the WDR73 gene, and is inherited in an autosomal recessive way. GARD says other, unknown genes may also be responsible.
Also known as: galloway mowat syndrome; galloway syndrome; microcephaly-hiatus hernia-nephrotic syndrome; microcephaly, hiatal hernia and nephrotic syndrome; microcephaly, hiatus hernia, nephrotic syndrome; nephrosis-microcephaly syndrome
Patient organizations
- American Association of Kidney PatientsGalloway-Mowat syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Galloway-Mowat syndrome.
Explore research for Galloway-Mowat syndrome
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