Living with NPHP3-related Meckel-like syndrome
A rare genetic condition with cystic, poorly formed kidneys, brain differences, and liver scarring, without extra fingers or toes.
Understanding NPHP3-related Meckel-like syndrome
It involves cysts in poorly developed kidneys (cystic renal dysplasia), sometimes with low amniotic fluid during pregnancy. Brain differences, often Dandy-Walker malformation, and scarring of the liver present from birth (congenital hepatic fibrosis) can occur. Unlike related conditions, extra fingers or toes are not present. GARD lists childhood as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cystic kidneys that did not form normally (renal dysplasia)
- Dandy-Walker malformation (a brain difference)
- Differences in the liver and bile ducts
- Low or high amniotic fluid during pregnancy
- Poorly developed lungs
- Intestine twisted from birth (intestinal malrotation)
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, digestive system specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in NPHP3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); 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 Dandy-Walker Alliance, Inc. 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
Changes in the NPHP3 gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: goldston syndrome; meckel syndrome type 7; meckel-gruber syndrome, type 7; meckel-like syndrome type 1; mks7; nephrocystin 3-related meckel-like syndrome
Patient organizations
- Dandy-Walker Alliance, Inc.NPHP3-related Meckel-like 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 NPHP3-related Meckel-like syndrome.
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