Author
Jennifer M Kalish, MD, PhD Turtle Endowed Chair in Beckwith-Wiedemann Syndrome Research, Assistant Professor of Pediatrics and Genetics, Perelman School of Medicine at the University of Pennsylvania; Director, Beckwith-Wiedemann Syndrome Clinic, Attending Physician, Division of Human Genetics, Children's Hospital of Philadelphia
Jennifer M Kalish, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Association for Cancer Research, American College of Medical Genetics and Genomics, American Medical Association
Disclosure: Nothing to disclose.
Specialty Editor Board
Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference
Disclosure: Nothing to disclose.
Barry B Bercu, MD Professor, Departments of Pediatrics, Molecular Pharmacology and Physiology, University of South Florida College of Medicine, All Children's Hospital
Barry B Bercu, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinology, American Medical Association, American Pediatric Society, Association of Clinical Scientists, Endocrine Society, Florida Medical Association, Pediatric Endocrine Society, Society for Pediatric Research, Southern Society for Pediatric Research, Society for the Study of Reproduction, American Federation for Clinical Research, Pituitary Society
Disclosure: Nothing to disclose.
Chief Editor
Robert P Hoffman, MD Professor and Program Director, Department of Pediatrics, Ohio State University College of Medicine; Pediatric Endocrinologist, Division of Pediatric, Endocrinology, Diabetes, and Metabolism, Nationwide Children's Hospital
Robert P Hoffman, MD is a member of the following medical societies: American College of Pediatricians, American Diabetes Association, American Pediatric Society, Christian Medical and Dental Associations, Endocrine Society, Midwest Society for Pediatric Research, Pediatric Endocrine Society, Society for Pediatric Research
Disclosure: Nothing to disclose.
Additional Contributors
Alice C Yu, BA MD Candidate, University of California, Los Angeles, David Geffen School of Medicine
Disclosure: Nothing to disclose.
Acknowledgements
Robert J Ferry Jr, MD Le Bonheur Chair of Excellence in Endocrinology, Professor and Chief, Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Tennessee Health Science Center
Robert J Ferry Jr, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, American Medical Association, Endocrine Society, Pediatric Endocrine Society, Society for Pediatric Research, and Texas Pediatric Society
Disclosure: Eli Lilly & Co Grant/research funds Investigator; MacroGenics, Inc Grant/research funds Investigator; Ipsen, SA (formerly Tercica, Inc) Grant/research funds Investigator; NovoNordisk SA Grant/research funds Investigator; Diamyd Grant/research funds Investigator; Bristol-Myers-Squibb Grant/research funds Other; Amylin Other; Pfizer Grant/research funds Other; Takeda Grant/research funds Other
FAQs
An abdominal ultrasound should be performed every three months until 7 years of age. Until 4 years of age, the ultrasound should include views of the liver, kidneys and other internal organs. After 4 years of age, renal ultrasounds with views of the adrenal glands should be performed until 7 years of age.
What is the clinical synopsis of Beckwith-Wiedemann syndrome? ›
Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal hypoglycemia (persistent hypoglycemia or transient hypoglycemia due to hyperinsulinemia), macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and ...
What is the scoring system for Beckwith-Wiedemann syndrome? ›
Based on the new BWS consensus scoring system, cardinal features are awarded 2 points each and suggestive features are awarded 1 point each. A total of 4 points is sufficient for a clinical diagnosis. Greater than 2 points suggests the need for genetic testing for BWS.
What is the life expectancy of someone with Beckwith-Wiedemann syndrome? ›
The prognosis varies depending on the symptoms' severity, molecular subtype, time of diagnosis, and occurrence of BWS-related tumors. Most patients with BWS have an average life expectancy. Adults with BWS may have less pronounced growth or facial abnormalities.
What is the most common cause of Beckwith-Wiedemann syndrome? ›
Beckwith-Wiedemann syndrome (BWS) is the most common overgrowth and cancer predisposition disorder. BWS is caused by changes on chromosome 11p15. 5 and is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from person to person.
Is Beckwith-Wiedemann syndrome a disability? ›
Unless a child has had untreated low blood sugar or other medical complication, there's no indication that Beckwith-Wiedemann Syndrome affects children's intellectual ability. Some children who have physical differences such as macroglossia (large tongue) that can affect speech may have some developmental delays.
Can you outgrow Beckwith-Wiedemann syndrome? ›
In most cases, the physical abnormalities associated with Beckwith-Wiedemann syndrome (BWS) cannot be "grown out of" as they are caused by structural changes in the body that are present from birth. However, some symptoms of BWS, such as hypoglycemia, may improve or resolve over time as the child grows and develops.
How do I know if my baby has Beckwith-Wiedemann syndrome? ›
BWS has various signs and symptoms, including a large body size at birth and taller-than-average height during childhood, a large tongue, and hypoglycemia (low blood sugar). In some children with BWS, parts of the body, such as the ears, may grow abnormally large, leading to an asymmetric or uneven appearance.
What is the differential diagnosis for Beckwith-Wiedemann syndrome? ›
Positive molecular tests may confirm the diagnosis; however a negative result does not rule out BWS. Differential diagnoses include Simpson-Golabi-Behmel, Costello, Perlman, and Sotos syndromes, and mucopolysaccharidosis type VI (see these terms).
Is Beckwith-Wiedemann syndrome from mom or dad? ›
About twenty percent of cases of Beckwith-Wiedemann syndrome are caused by a genetic change known as paternal uniparental disomy (UPD). Paternal UPD causes people to have two active copies of paternally inherited genes rather than one active copy from the father and one inactive copy from the mother.
Conclusions: As intrinsic characteristics of BWS, individuals exhibited macroglossia resulting in an anterior open bite and a wide dental arch. A long facial height and an enlarged anterior cranial base and mandibular body were also noted.
Does Beckwith-Wiedemann syndrome cause learning difficulties? ›
Learning difficulties are not part of the condition other than in the very small number of children with a complex chromosome abnormality.
How to test for BWS? ›
How is Beckwith-Wiedemann syndrome diagnosed?
- a detailed review of your child's medical history.
- an extensive physical examination, including noting the distinguishing features of BWS.
- specialized tests, such as bloodwork or ultrasounds.
- genetic testing.
Workup in macroglossia
Computed tomography (CT) scanning and magnetic resonance imaging (MRI) - Helpful if macroglossia is interfering with the airway, especially in severe obstructive sleep apnea. Ultrasonography - May be applicable as a primary diagnostic modality to determine the size of a tongue lesion.
What is the diagnostic criteria for macroglossia? ›
Macroglossia is diagnosed clinically [1,2]. In utero, an ultrasound scan can detect macroglossia [6]. X-rays can be used to determine the size of the tongue when primarily used to measure the size of the head. Diagnosis of any underlying condition is also important.
How do you test for Wiedemann Steiner syndrome? ›
There are currently no established clinical diagnostic criteria for Wiedemann-Steiner syndrome. Therefore, a diagnosis cannot be established by clinical features alone. Genetic testing for pathogenic variants in the KMT2A gene is required to confirm the diagnosis.
