Bowen-Conradi syndrome

Title

Other Names:

Bowen Hutterite syndrome (formerly); Bowen-Conradi Hutterite syndrome; BWCNS

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

Bowen-Conradi syndrome is a very rare genetic disorder characterized by growth delays before birth, failure to thrive during infancy, and malformations of the head and facial area. Other physical abnormalities include small head, prominent nose, small chin, mild joint restriction, clinodactyly, camptodactyly, foot deformities, and/or undescended testes (cryptorchidism) in affected males. Some affected infants may also have kidney, brain, and/or other abnormalities. Many infants die within the first few months of life. This condition is inherited in an autosomal recessive fashion.^[1]^[2]

Last updated: 4/22/2011

Symptoms 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.

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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
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Micrognathia	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 developmental delay		0011344
Severe postnatal growth retardation	Marked growth retardation Severe growth delay in children Severe postnatal growth failure [ more ]	0008850
Short stature	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
Seizures	Seizure	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
Autosomal recessive inheritance		0000007
Small for gestational age	Birth weight less than 10th percentile Low birth weight [ more ]	0001518

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 12/1/2018

Do you have updated information on this disease? We want to hear from you.

Diagnosis 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.

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases 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 macrocephaly and severe growth and developmental delay such as chromosome breakage disorders, DNA damage repair disorders, macrocephalic primordial dwarfisms and certain forms of carbohydrate deficient glycoprotein syndromes may also show some overlap. Visit the Orphanet disease page for more information.

Conditions with similar signs and symptoms from Orphanet

Differential diagnosis includes trisomy 18, COFS syndrome and fetal akinesia deformation sequence. Other conditions with macrocephaly and severe growth and developmental delay such as chromosome breakage disorders, DNA damage repair disorders, macrocephalic 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 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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.