Beckwith-Wiedemann Syndrome Clinical Pathway — N/IICU

Patient Cohort

This pathway guides the care of neonates/infants born at the CHOP SDU or referred from outside institutions for further evaluation and treatment with overgrowth features such as giant omphalocele and/or constellation of findings suspicious for BWS.

Beckwith-Wiedemann Syndrome (BWS) is a human genomic imprinting disorder with much phenotypic variability. Variable phenotypes might include:

Macrosomia
Lateralized overgrowth
Macroglossia
Abdominal wall defects
Neonatal hypoglycemia
Predisposition to embryonal tumours¹

BWS is caused mainly by epigenetic or genetic changes in the chromosome 11p15.5 region.¹

BWS Clinical Features (use .bwschart to score)

Cardinal Features 2 pts for each feature	Suggestive Features 1 pt for each feature
Macroglossia Omphalocele Lateralized overgrowth/hemihypertrophy Wilms tumor or nephroblastomatosis Hyperinsulinism Adrenal cortex cytomegaly Placental mesenchymal dysplasia Pancreatic adenomatosis	Macrosomia (birth wt > 2 SD above mean) Facial nevus simplex Polyhydramnios/placentomegaly Ear creases/pits Transient Hypoglycemia, lasting < 1 wk Typical BWS tumors: Neuroblastoma Rhabdomyosarcoma Unilateral Wilms tumor Hepatoblastoma Adrenocortical carcinoma Pheochromocytoma Nephromegaly/hepatomegaly Umbilical hernia and/or diastasis recti

Reference: Clinical and Molecular Diagnosis, Screening and Management of Beckwith–Wiedemann Syndrome: an International Consensus Statement

If you have questions about any of the clinical pathways or about the process of creating a clinical pathway, please contact us.

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The clinical pathways are based upon publicly available medical evidence and/or a consensus of medical practitioners at The Children’s Hospital of Philadelphia (“CHOP”) and are current at the time of publication. These clinical pathways are intended to be a guide for practitioners and may need to be adapted for each specific patient based on the practitioner’s professional judgment, consideration of any unique circumstances, the needs of each patient and their family, and/or the availability of various resources at the health care institution where the patient is located.

Accordingly, these clinical pathways are not intended to constitute medical advice or treatment, or to create a doctor-patient relationship between/among The Children’s Hospital of Philadelphia (“CHOP”), its physicians and the individual patients in question. CHOP does not represent or warrant that the clinical pathways are in every respect accurate or complete, or that one or more of them apply to a particular patient or medical condition. CHOP is not responsible for any errors or omissions in the clinical pathways, or for any outcomes a patient might experience where a clinician consulted one or more such pathways in connection with providing care for that patient.

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Beckwith-Wiedemann Syndrome Clinical Pathway — N/IICU

Patient Cohort

BWS Clinical Features (use .bwschart to score)

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Beckwith-Wiedemann Syndrome — Patient Cohort — Clinical Pathway: ICU and Inpatient

Beckwith-Wiedemann Syndrome Clinical Pathway — N/IICU

Patient Cohort

BWS Clinical Features (use .bwschart to score)