Living with Czeizel-Losonci syndrome
An extremely rare genetic condition present at birth that affects the hands, feet, spine, and kidneys.
Understanding Czeizel-Losonci syndrome
It is marked by split hand and split foot, swelling of the kidneys from urine backup (hydronephrosis), and spina bifida. Other findings include a curved spine, a hernia in the diaphragm, and differences in the forearm bones. GARD notes no further descriptions in the medical literature since 1987.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Split hand (cleft hand)
- Split foot
- Hydronephrosis (swollen kidney)
- Spina bifida
- Hernia in the diaphragm
- Urinary tract 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 genetic 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
- Genetic specialists (geneticists); 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 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 changes in genes cause this condition. It is inherited in an autosomal dominant way, so a changed copy of the gene from one parent can be enough.
Also known as: czeizel losonci syndrome; split hand urinary anomalies spina bifida; split hand with obstructive uropathy, spina bifida and diaphragmatic defects; split hand-urinary anomalies-spina bifida syndrome; split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome; split hand, urinary anomalies, spina bifida syndrome
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 Czeizel-Losonci syndrome.
Explore research for Czeizel-Losonci syndrome
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