Living with Tall stature-intellectual disability-renal anomalies syndrome
A rare overgrowth condition with tall stature, large hands and feet, developmental delay, and kidney differences.
Understanding Tall stature-intellectual disability-renal anomalies syndrome
People have large hands and feet with large thumbs and big toes, and spatula-shaped fingers and toes. Babies are often larger than typical at birth. Intellectual disability, hearing loss, heart and kidney differences, and distinct facial features can occur. Signs may begin during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Tall stature
- Large hands and feet
- Intellectual disability and delayed development
- Large head
- Kidney differences
- Heart differences
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.
- 3Consider genetic testing
Changes in FIBP 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)
- 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
Changes in the FIBP gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: tall stature, intellectual disability, renal anomalies syndrome; thauvin robinet faivre syndrome; thauvin-robinet-faivre syndrome; trofas
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 Tall stature-intellectual disability-renal anomalies syndrome.
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