Living with Karsch-Neugebauer syndrome
A rare condition present from birth with split hands and feet and eye differences, especially shaking eye movements.
Understanding Karsch-Neugebauer syndrome
The eye differences are especially nystagmus (shaking eye movements). It is noticed in newborns and infants. The underlying genetic defect has not been found yet.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Split hand
- Split foot
- Eye differences
- Shaking eye movements (nystagmus)
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 bone and joint 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
GARD says it is thought to be passed down in an autosomal dominant way, meaning one changed copy of a gene is enough. The gene has not been identified yet.
Also known as: karsch neugebauer syndrome; split hand/split foot-nystagmus syndrome; split-hand with congenital nystagmus, fundal changes, and cataracts
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 Karsch-Neugebauer syndrome.
Explore research for Karsch-Neugebauer syndrome
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- Recruiting studies from ClinicalTrials.gov
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