Living with Microcephaly-glomerulonephritis-marfanoid habitus syndrome
A rare syndrome with intellectual disability, a small head, a tall slender build, and kidney inflammation.
Understanding Microcephaly-glomerulonephritis-marfanoid habitus syndrome
It is a rare intellectual disability syndrome. People have a small head, a tall and slender body shape like that seen in Marfan syndrome (marfanoid habitus), and glomerulonephritis, which is inflammation of the kidneys' filters. GARD notes there have been no further reports since 1992. Signs are seen in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head from birth (primary microcephaly)
- Moderate intellectual disability
- Kidney inflammation (glomerulonephritis)
- Chronic kidney disease
- Tall stature with long, slender fingers
- Very flexible joints
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 and genetic 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)
- 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 rare disease patient organizations for support
- 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 genes (also called variants) cause this syndrome, and it is inherited in an autosomal recessive way. This means a child inherits a changed copy of the gene from each parent.
Also known as: marfanoid habitus with microcephaly and glomerulonephritis
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Microcephaly-glomerulonephritis-marfanoid habitus syndrome.
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