Living with Nephrosis-deafness-urinary tract-digital malformations syndrome
A rare inherited condition with kidney, urinary tract, hearing, and thumb and toe differences, seen from birth.
Understanding Nephrosis-deafness-urinary tract-digital malformations syndrome
Features include urinary tract differences, nephrosis (a kidney condition), hearing loss from the middle ear (conductive), and differences in the thumbs and big toes, including short and split end bones. There have been no further descriptions in the medical literature since 1962.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Urinary tract differences
- Swelling of the kidneys (hydronephrosis)
- Hearing loss (conductive)
- Thumb differences
- Broad big toes
- Split end bone of the thumb or big toe
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 ear, nose, and throat specialists, genetic specialists, kidney specialists and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); 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
GARD says changes in genes cause this condition. It can be inherited in an autosomal recessive or an X-linked pattern.
Also known as: braun-bayer syndrome; nephrosis with deafness and urinary tract and digital malformations; nephrosis-hearing loss-urinary tract-digital malformations 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 Nephrosis-deafness-urinary tract-digital malformations syndrome.
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