Rare Endocrinology News
Disease Profile
Bowen-Conradi syndrome
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
Neonatal
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)
Bowen Hutterite syndrome (formerly); Bowen-Conradi Hutterite syndrome; BWCNS
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Bowen-Conradi
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
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 |
| Feeding difficulties in infancy | 0008872 | |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
| Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] |
0000448 |
| Severe global |
0011344 | |
| Severe postnatal growth retardation |
Marked growth retardation
Severe growth delay in children
Severe postnatal growth failure
[ more ] |
0008850 |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Sloping forehead |
Inclined forehead
Receding forehead
[ more ] |
0000340 |
| 30%-79% of people have these symptoms | ||
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
| Rocker bottom foot |
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet
[ more ] |
0001838 |
| Severe intrauterine growth retardation |
Severe prenatal growth deficiency
|
0008846 |
| 5%-29% of people have these symptoms | ||
| Abnormal lung lobation | 0002101 | |
| Abnormality of cardiovascular system morphology | 0030680 | |
| Oral cleft |
Cleft of the mouth
|
0000202 |
| 0001250 | ||
| Ventriculomegaly | 0002119 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal joint morphology |
Abnormal shape of joints
Abnormality of the joints
Anomaly of the joints
[ more ] |
0001367 |
| 0000007 | ||
| Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ] |
0001518 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
Differential diagnosis includes trisomy 18, COFS syndrome and fetal akinesia deformation sequence. Other conditions with microcephaly and severe growth and developmental delay such as chromosome breakage disorders, DNA damage repair disorders, microcephalic primordial dwarfisms and certain forms of carbohydrate deficient glycoprotein syndromes may also show some overlap.
Visit the Orphanet disease page for more information.
|
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
- Genetics Home Reference (GHR) contains information on Bowen-Conradi syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Bowen-Conradi syndrome. Click on the link to view a sample search on this topic.
References
- Orphanet. Bowen-Conradi syndrome. 2004; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1270. Accessed 4/21/2011.
- Bowen Hutterite Syndrome. National Organization for Rare Disorders (NORD). https://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Bowen%20Hutterite%20Syndrome. Accessed 4/21/2011.