National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Split hand urinary anomalies spina bifida


Other Names:
Czeizel-Losonci syndrome; Split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2437

Definition
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.

Visit the Orphanet disease page for more resources.
Last updated: 3/1/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Hydronephrosis 0000126
Posterolateral diaphragmatic hernia 0025193
Split foot
Lobster-claw foot deformity
Split-foot
[ more ] 		0001839
Ureteral agenesis 0012300
5%-29% of people have these symptoms
1-2 finger syndactyly
Webbed 1st-2nd finger
Webbed thumb and index finger
[ more ] 		0010704
2-3 finger syndactyly
Webbed 2nd-3rd fingers
0001233
3-4 finger syndactyly
Webbed 3rd-4th fingers
0006097
Abnormality of the mediastinum 0045026
Aplasia of the left hemidiaphragm 0009112
Clubbing of toes 0100760
Congenital megaureter 0008676
Dextrocardia
Heart tip and four chambers point towards right side of body
0001651
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypoplastic helices 0008589
Hypoplastic nipples
Small nipples
0002557
Low-set, posteriorly rotated ears 0000368
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Myelomeningocele 0002475
Prominent antitragus 0008593
Pulmonary hypoplasia
Small lung
Underdeveloped lung
[ more ] 		0002089
Radial deviation of the thumb 0040021
Single transverse palmar crease 0000954
Sloping forehead
Inclined forehead
Receding forehead
[ more ] 		0000340
Spina bifida occulta 0003298
Thickened nuchal skin fold
Thickened skin folds of neck
Thickened skin over the neck
[ more ] 		0000474
Thin calvarium
Thin cranial bone
0010539
Thoracolumbar scoliosis 0002944
Tracheoesophageal fistula 0002575
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] 		0006610
Percent of people who have these symptoms is not available through HPO
Abnormality of the diaphragm
Diaphragm issues
Diaphragmatic defect
[ more ] 		0000775
Autosomal dominant inheritance 0000006
Cutaneous finger syndactyly
Webbed fingers
Webbed skin of fingers
[ more ] 		0010554
Split hand
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ] 		0001171
Ureteral atresia 0005999
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

  • RareConnect is an online social network for patients and families to connect with one another and share their experience living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders). Click on the link above to view the community for limb differences.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The Children’s Hospital Boston has a information page on congenital limb defects. Click on the link above to view this information page.
  • More information on limb abnormalities can be found at the following link from MedlinePlus, the National Library of Medicine Web site designed to help you research your health questions.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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