The identification of nsd1 mutation in patients with weaver and sotos syndrome demonstrates that the two conditions are allelic, but it remains possible that separate, second weaver syndrome gene exists. Weaver syndrome genetic and rare diseases information center. Dec 15, 2011 scientists have found a gene that causes weaver syndrome, a rare genetic disorder that typically causes large size at birth, tall stature, developmental delay during childhood, and intellectual. Enable javascript to view the expandcollapse boxes. In a child with phenotypic characteristics consistent. World map of weaver syndrome find people with weaver syndrome through the map. It hasalso been referred to as weaver williams syndrome. They suggested that in the early years of life the. Weaver syndrome ws, a condition first described in 1974 by weaver et al. Weaver syndrome with pes cavus, american journal of.
Ezh2 mutations found in the weaver overgrowth syndrome cause. Life expectancy of people with weaver syndrome and recent progresses and researches in weaver syndrome. Although most individuals diagnosed with a heterozygous ezh2 pathogenic variant have been identified because of a clinical suspicion of weaver syndrome, a minority have been identified through molecular genetic testing of family members of probands or individuals with. Weaver syndrome is an unusual pathological condition in which there is accelerated physical growth than normal. There is no specific treatment for wvs although individual symptom. This paper reports the first female case of the weaver syndrome. A number of different symptoms occur in weaver syndrome, however. Editorovergrowth is a well recognised feature in several dysmorphic syndromes.
Ezh2related overgrowth includes ezh2related weaver syndrome at one end of the spectrum and tall stature at the other. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 toll free. Of these 160 animals, 86 were weaverfree, 31 weaver carriers and 43 weaveraffected. Weaver syndrome is a rare condition that is characterized primarily by tall stature. Weaver syndrome also called weaverwilliams syndrome is a congenital disorder associated with rapid growth beginning in the prenatal period, a characteristic facial appearance and certain skeletal features. Acute lymphoblastic leukemia in weaver syndrome, american. This condition is an overgrowth syndrome and is characterized by tall stature, cognitive delays, distinctive facies, skeletal findings advanced bone age and camptodactyly of the fingers or toes, and variable other findings. In 1974, weaver et al 1 described a syndrome of accelerated growth and advanced bone age associated with macrocephaly, developmental delay, and distinctive facies with a broad. These conditions often have overlapping clinical pictures and on occasions it can be difficult to fit patients into known categories. Weaver williams syndrome genetic and rare diseases. Three neoplasms have been reported in weaver syndrome.
In 1974, weaver et al 1 described a syndrome of accelerated growth and advanced bone age associated with macrocephaly, developmental delay, and. It can be associated with nsd1 references weaver dd, graham cb, thomas it, smith dw 1974. Other weaverlike syndromes include cohengibson syndrome cogis. For language access assistance, contact the ncats public information officer. Weaver syndrome is a rare autosomal dominant congenital disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. In germany, the occurrence of weaver syndrome reached its peak. The first page of the pdf of this article appears above.
Weaver syndrome is a very rare genetic disorder that presents with a range of musculoskeletal, cutaneous, cognitive, and facial symptoms. A probable case of familial weaver syndrome associated with. Become ambassador and add your answer weaver syndrome life expectancy. Pmc free article greenberg f, wasiewski w, mccabe er. Mar 21, 2018 weaver syndrome is an unusual pathological condition in which there is accelerated physical growth than normal.
Weaver syndrome and instability of the upper cervical spine. However, there is likely to be variation in final adult height in this syndrome and it is possible that treatment of the ovarian tumour affected her growth. At the age of 25, her height 187 cm, as well as her weight and head circumference, was above the 98th centile. Weaver syndrome is a rare autosomal dominant genetic disorder associated with rapid growth. Confirmation of a nonsynonymous snp in pnpla8 as a. Patients with weaver syndrome show growth and bone development maturation. Hypertonia and bone maturation acceleration are somewhat less pronounced than. With appropriate treatment and management, patients with weaver syndrome appear to do well, both. Overgrowth syndromes such as beckwithwiedemann syndrome, sotos syndrome, and weaver syndrome have an increased risk of neoplasia. Weaver syndrome nord national organization for rare. Weaver syndrome, type 2 definition of weaver syndrome. Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first years of life. Weaver syndrome with pes cavus, american journal of medical. A main difference between weaver syndrome and tbrs is in the cause of the syndrome.
Excessive growth often starts in infancy and continues into the early teen years. Some of the manifestations characterize both the weaver and sotos syndrome, and distinction between the. Developmental delays may improve in the schoolage years. Other weaver like syndromes include cohengibson syndrome cogis.
Weaver syndrome is a genetic disorder in which children show accelerated bone growth, advanced bone age and a characteristic appearance of the face. The disorder may be accompanied by autism, mild intellectual disability, delayed motor, cognitive, and social development, hypotonia low muscle tone, and speech impairments. Weaver syndrome is a condition that involves tall stature with or without a large head size macrocephaly, a variable degree of intellectual disability usually mild, and characteristic facial features. Weaver syndrome genetic and rare diseases information. Sotos syndrome, which shows considerable phenotypic overlap with weaver syndrome, is caused by mutation in the nsd1 gene on chromosome 5q35. Weaver syndrome with pes cavus weaver syndrome with pes cavus farrell, sandra a hughes, helen e opitz, john m reynolds, james f. Further symptoms are thin, deepset nails, talipes equinovarus, widened distal femora, and some minor abnormalities. Moore weaver syndrome symptoms, causes, diagnosis, and treatment information for moore weaver syndrome distal arthrogryposis, moore weaver type with alternative diagnoses, fulltext book chapters, misdiagnosis, research treatments, prevention, and prognosis. Weaver syndrome is a congenital genetic syndrome associated with rapid growth beginning in the prenatal period as well as with a specific facial appearance and certain skeletal features. The nsd1 mutations in patients with weaver syndrome are in exons 5, 16, 19, 22 and 23. Users with questions about a personal health condition should consult with a qualified healthcare professional. It is characterized by advanced osseous maturation and distinctive craniofacial, skeletal and neurological abnormalities. A syndrome of overgrowth of prenatal onset, advanced bone age, retarded psychomotor development, widened distal long bones, camptodactyly, and distinctive craniofacial appearance marked by large ears, broad forehead, hypertelorism, and long philtrum. Know the causes, symptoms, treatment of weaver syndrome.
In order to map weaver syndrome as a quantitative trait, phenotypes were converted into numerical values as follows. Ezh2 mutations found in the weaver overgrowth syndrome. Moore weaver syndrome symptoms, causes, diagnosis, and treatment information for moore weaver syndrome distal arthrogryposis, mooreweaver type with alternative diagnoses, fulltext book chapters, misdiagnosis, research treatments, prevention, and prognosis. Confirmation of a nonsynonymous snp in pnpla8 as a candidate.
Weaver syndrome is caused by a mutation in the ezh2 gene, this gene proves instructions for making an enzyme that modifies the proteins that structurally help the shape of the chromosomes. The diagnosis rests on a thorough clinical assessment, which is the only tool to. The identification of nsd1 mutation in patients with weaver and sotos syndrome demonstrates that the two conditions are allelic, but it remains possible that. Here we report bilateral pes cavus in an affected girl. Sotos syndrome is not a lifethreatening disorder and patients may have a normal life expectancy. Scientists have found a gene that causes weaver syndrome, a rare genetic disorder that typically causes large size at birth, tall stature, developmental delay during childhood, and intellectual. This test analyzes ezh2, which is the gene that is most commonly associated with weaver syndrome. Other symptoms can include increased muscle tone hypertonia with exaggerated reflexes spasticity, slow development of voluntary movements psychomotor. This accelerated growth normally starts before birth and continues after the birth of the child such that the bones of the child start to grow much faster than normal. Weaver syndrome is considered a variant of the marshallsmith syndrome. Overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly. Wernickekorsakoff syndrome wks and deficits associated. A probable case of familial weaver syndrome associated.
Weaver syndrome is characterized by overgrowth, accelerated skeletal maturation, intellectual disability, and possibly increased susceptibility to malignancies. Two previous cases of neuroblastoma have been reported in children with weaver syndrome. Wernickekorsakoff syndrome wks and deficits associated with memory wernickekorsakoff syndrome wks may be overly represented in chemical dependency treatment programs, detoxification centers, and other settings that serve atrisk individuals who struggle with the challenges of chronic alcohol use brown et al. Other signs and symptoms of the condition may include macrocephaly unusually large head size. Treatment of macroglossia in a child with weaver syndrome. Weaver syndrome, type 2 definition of weaver syndrome, type. Whether this boy showed a milder expression of the weaver syndrome or benign familial macrocephaly is discussed. What is the life expectancy of someone with weaver syndrome. Usually starting before birth prenatal onset, physical growth and bone development maturation can occur more quickly than average. Excessive growth in early life is the most prominent finding, followed by intellectual disability of various degrees and connective tissue disorders such as laxity of ligaments. Jun 22, 2015 this is a lecture about the genetic disease weaver syndrome for trainees and medical professionals. As yet, it is still unclear how this results in the effects of weaver. A second boy with primordial overgrowth and macrocephaly demonstrated some, but not all, the symptoms of this syndrome.
Weaver smith syndrome how is weaver smith syndrome. Weaver syndrome symptoms, causes, diagnosis, treatments. Scientists have found a gene that causes weaver syndrome, a rare genetic disorder. Treatment of weaver syndrome is symptomatic and supportive.
Weaver syndrome is a rare condition that is characterized primarily by. Pdf on jan 1, 2009, nitin bansal and others published weaver syndrome. The diagnosis rests on a thorough clinical assessment, which is the only. This is a lecture about the genetic disease weaver syndrome for trainees and medical professionals. Although most individuals diagnosed with a heterozygous ezh2 pathogenic variant have been identified because of a clinical suspicion of weaver syndrome, a minority have been identified through molecular genetic testing of family members of. Mar 16, 2016 weaver syndrome is a rare condition that is characterized primarily by tall stature. An overgrowth syndrome characterized by accelerated growth and advanced bone age evident at birth, unusual craniofacial appearance, hoarse lowpitched cry, and hypertonia increased muscle tone with camptodactyly inability to fully extend the fingers. The resources on this site should not be used as a substitute for professional medical care or advice. It hasalso been referred to as weaverwilliams syndrome. Gene discovered for weaver syndrome medical xpress. We present a third description of a patient with weaver syndrome and neuroblastoma. Weaver syndrome wvs is a rare, multisystem disorder characterized by tall stature. If you have problems viewing pdf files, download the latest version of adobe reader.
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