Living with Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
A rare genetic syndrome with severe brain differences and kidney dysplasia, noticed during pregnancy with low amniotic fluid.
Understanding Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
It is marked by hydranencephaly (the main parts of the brain are largely replaced by fluid) and kidney dysplasia or absent kidneys. Pregnancy is affected by very low or absent amniotic fluid. This can cause the Potter sequence, which includes typical facial features, a small jaw, joint contractures, club feet, and underdeveloped lungs. Brain tissue shows many cells with more than one nucleus.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hydranencephaly (brain largely replaced by fluid)
- Kidney dysplasia
- Low amniotic fluid during pregnancy
- Underdeveloped lungs
- Club feet and joint contractures
- Small cerebellum
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, kidney specialists and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in CEP55 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); Genetic specialists (geneticists); Kidney specialists (nephrologists); Urinary and male reproductive system specialists (urologists)
- 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 National Kidney Foundation 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
This condition is caused by changes in the CEP55 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: hydranencephaly with renal aplasia-dysplasia; march syndrome; multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
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