Living with Neurofaciodigitorenal syndrome
A rare condition present from birth with nervous system, facial, finger and toe, and kidney differences.
Understanding Neurofaciodigitorenal syndrome
It includes a larger brain, low muscle tone, intellectual disability, facial features such as a high prominent forehead and drooping eyelids, differences in the fingers and big toes, and a missing kidney on one side. Slow growth before birth, short height, and heart defects may also occur. There have been no further descriptions in the medical literature since 1997.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Drooping eyelids (ptosis)
- Ear differences
- Finger-like thumb (triphalangeal thumb)
- Missing kidney on one side
- Heart differences
- Eye folds and downslanting eyes
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 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
GARD says changes in genes cause this condition. It doesn't list a specific gene or how it is inherited.
Also known as: freire maia pinheiro opitz syndrome; freire maia-pinheiro-opitz syndrome; nfdr (neurofaciodigitorenal) syndrome; nfdr syndrome
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Neurofaciodigitorenal syndrome.
Explore research for Neurofaciodigitorenal syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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