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Disease Profile

Split hand urinary anomalies spina bifida

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Czeizel-Losonci syndrome; Split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases; Nervous System Diseases

Summary

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.

Symptoms

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.

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

Organizations

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.

      Learn more

      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.