No consensus clinical diagnostic criteria for<unk>  (BWS) exist.<unk>  (BWS) should be suspected in individuals who have one or more of the following major and/or minor findings. Major findings associated with BWS * Macrosomia (traditionally defined as weight and length/height >97th centile) * Macroglossia * Hemihyperplasia (asymmetric overgrowth of one or more regions of the body) * Omphalocele (also called exomphalos) or umbilical hernia * Embryonal tumor (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, rhabdomyosarcoma) in childhood * Visceromegaly involving one or more intra-abdominal organs including liver, spleen, kidneys, adrenal glands, and/or pancreas * Cytomegaly of the fetal adrenal cortex (pathognomonic) * Renal abnormalities including structural abnormalities, nephromegaly, nephrocalcinosis, and/or later development of medullary sponge kidney * Anterior linear ear lobe creases and/or posterior helical ear pits * Placental mesenchymal dysplasia * Cleft palate (rare in BWS) * Cardiomyopathy (rare in BWS) * Positive family history (≥1 family members with a clinical diagnosis of BWS or a history or features suggestive of BWS) Minor findings associated with BWS * Pregnancy-related findings including polyhydramnios and prematurity in fetuses with the condition. * Neonatal hypoglycemia * Vascular lesions including nevus simplex (typically appearing on the forehead, glabella, and/or back of the neck) or hemangiomas (cutaneous or extracutaneous) * Characteristic facies including midface retrusion and infraorbital creases * Structural cardiac anomalies or cardiomegaly * Diastasis recti * Advanced bone age (common in overgrowth/endocrine disorders) The diagnosis of BWS is established in a proband with either of the following: * Three major or two major plus at least one minor criteria Note: BWS should be considered a clinical spectrum, with some affected individuals having only one or two suggestive clinical findings. Therefore, the generally accepted clinical criteria proposed here should not be viewed as absolute but rather as guidelines. In other words, they cannot be used to rule out a diagnosis of BWS and cannot substitute for clinical judgment. * An epigenetic or genomic alteration leading to abnormal methylation at 11p15.5 or a heterozygous BWS-causing pathogenic variant in CDKN1C in the presence of one or more clinical findings Most children with BWS do not have all of these features. In addition, some children with BWS have other findings including: nevus flammeus, prominent occiput, midface hypoplasia, hemihypertrophy, genitourinary anomalies (enlarged kidneys), cardiac anomalies, musculoskeletal abnormalities, and hearing loss. Also, some premature newborns with BWS do not have macroglossia until closer to their anticipated delivery date. Given the variation among individuals with BWS and the lack of a simple diagnostic test, identifying BWS can be difficult. In an attempt to standardize the classification of BWS, DeBaun et al. have defined a child as having BWS if the child has been diagnosed by a physician as having BWS and if the child has at least two of the five common features associated with BWS (macroglossia, macrosomia, midline abdominal wall defects, ear creases, neonatal hypoglycemia). Another definition presented by Elliot et al. includes the presence of either three major features (anterior abdominal wall defect, macroglossia, or prepostnatal overgrowth) or two major plus three minor findings (ear creases, nevus flammeus, neonatal hypoglycemia, nephromegaly, or hemihyperplasia). In general, children with BWS do very well and grow up to become adults of normal size and intelligence, usually without the syndromic features of their childhood. Neoplasms Most children (>80%) with BWS do not develop cancer; however, children with BWS are much more likely (~600 times more) than other children to develop certain childhood cancers, particularly Wilms' tumor (nephroblastoma), pancreatoblastoma and hepatoblastoma. Individuals with BWS appear to only be at increased risk for cancer during childhood (especially before age four) and do not have an increased risk of developing cancer in adulthood. If 100 children with BWS were followed from birth until age ten, about 10 cases of cancer would be expected in the group before age four, and about 1 case of cancer in the group would be expected between age four and ten. In addition to Wilms tumor and hepatoblastoma, children with BWS have been shown in individual case reports to develop ganglioneuroma, adrenocortical carcinoma, acute lymphoid leukemia, liver sarcoma, thyroid carcinoma, melanoma, rhabdomyosarcoma, and mesoblastic nephroma. Wilms tumor, hepatoblastoma, and mesoblastic nephroma can usually be cured if diagnosed early. Early diagnosis allows physicians to treat the cancer when it is at an early stage. In addition, there is less toxic treatment. Given the importance of early diagnosis, all children with BWS should receive cancer screening. An abdominal ultrasound every 3 months until at least eight years of age is recommended and a blood test to measure alpha-fetoprotein (AFP) every 6 weeks until at least four years of age. Families and physicians should determine screening schedules for specific patients, especially the age at which to discontinue screening, based upon their own evaluation of the risk-benefit ratio.
Beckwith–Wiedemann syndrome
Wiedemann–Rautenstrauch syndrome
Wiedemann–Steiner syndrome
Weismann-Netter–Stuhl syndrome
Laurence–Moon syndrome
Prader–Willi syndrome
Wilson–Turner syndrome
Bardet–Biedl syndrome