Rare Endocrinology News
Disease Profile
Split hand urinary anomalies spina bifida
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.
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Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
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
Orpha Number: 2437
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 |
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 | |
0008676 | ||
Dextrocardia |
Heart tip and four chambers point towards right side of body
|
0001651 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypoplastic helices | 0008589 | |
Hypoplastic nipples |
Small nipples
|
0002557 |
Low-set, posteriorly rotated ears | 0000368 | |
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 |
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 |
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
-
Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane, Suite 104
Orlando, FL 32814
Telephone: +1-407-895-0802
E-mail: [email protected]
Website: https://www.birthdefects.org/ -
Hydrocephalus Canada
16 Four Seasons Place
Suite 111
Toronto, M9B 6E5 Canada
Toll-free: 800-387-1575
Telephone: 416-214-1056
Fax: 416-214-1446
E-mail: [email protected]
Website: https://www.hydrocephalus.ca
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.