Living with Keipert syndrome
A rare genetic condition with facial differences, hearing loss from birth, and wide thumbs and big toes.
Understanding Keipert syndrome
Facial features include widely spaced eyes, a broad, high nasal bridge, and an underdeveloped upper jaw. Sensorineural hearing loss is present at birth and ranges from mild to severe. Thumbs and big toes are broad, and the ends of the toes may be small. Some people have heart valve narrowing, hoarseness, or a missing kidney. It can be noticed during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss present from birth
- Broad thumbs and big toes
- Small or missing toenails
- Broad, high nasal bridge
- Underdeveloped upper jaw
- Hoarse voice
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.
- 3Consider genetic testing
Changes in GPC4 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)
- 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 the GPC4 gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: keipert syndrome, x-linked recessive; kpts; nasodigitoacoustic syndrome; nasodigitoacoustic syndrome, formerly
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 Keipert syndrome.
Explore research for Keipert syndrome
Explore actively recruiting Keipert syndrome studies with HealthSpark.
Find actively recruiting studies for Keipert syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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