The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of periauricular region||50%|
|Abnormality of the helix||50%|
|Abnormality of the tongue||50%|
|Anterior creases of earlobe||50%|
|Congenital diaphragmatic hernia||50%|
|Exocrine pancreatic insufficiency||50%|
|Abnormality of the adrenal glands||7.5%|
|Neoplasm of the liver||7.5%|
|Neurological speech impairment||7.5%|
|Polycystic kidney dysplasia||7.5%|
|Abnormality of the ear||-|
|Accelerated skeletal maturation||-|
|Autosomal dominant inheritance||-|
|Coarse facial features||-|
|Overgrowth of external genitalia||-|
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
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My daughter has Beckwith-Wiedemann. We do not know who the carrier is but we think it's my husband with his family history. If we were to have another child and my husband does carry the gene, how likely is it to pass again to the next child? See answer
My daughter was adopted at birth and diagnosed with Beckwith-Wiedemann syndrome. She is now 21 years old and just became pregnant. When she was 15 months old she did have hepatoblastoma and has an omphalocele minor that I am worried may cause problems as her belly stretches. I am a concerned mother wondering if there is any chance of her baby having Beckwith-Wiedemann syndrome or any problems related to the syndrome. See answer
My son was diagnosed with Beckwidth Weidemann syndrome. I would like to know if hemihypertrophy always happens? If not, what percentage of patients does it affect? What urological symptoms are associated with Beckwidth Weidemann syndrome? Does having urinary obstruction increase a person with this syndrome's risk for developing Wilms' tumor? What is the risk for Wilms tumor and what kind of surveillance is needed? See answer
Are there any sources for the physical milestones of children with Beckwith-Wiedemann syndrome? especially the age at which a child with Beckwith-Wiedemann syndrome typically walk? See answer