Editorovergrowth is a well recognised feature in several dysmorphic syndromes. We used triobased wholeexome sequencing to analyze two families affected by weaver syndrome, including one of the original families reported in 1974. The weaver syndrome network wsn is a voluntary advocacy organization dedicated to providing support and information to families and caregivers of individuals with weaver syndrome. Weaver syndromedefinitionweaver 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. Weaver, american physician and david weyhe smith, american pediatrician. These conditions often have overlapping clinical pictures and on occasions it can be difficult to fit patients into known categories. Fine mapping for weaver syndrome in brown swiss cattle and the identification of 41 concordant mutations across nrcam, pnpla8 and cttnbp2 matthew mcclure1, euisoo kim1, derek bickhart1, daniel null2, tabatha cooper2, john cole2, george wiggans2, paolo ajmonemarsan3, licia colli3, enrico santus4, george e. Weaver syndrome nord national organization for rare disorders. 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. Clarifying the clinical phenotype weaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and.
Weaver syndrome genetic and rare diseases information. 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. Overgrowth syndromes such as beckwithwiedemann syndrome, sotos syndrome, and weaver syndrome have an increased risk of neoplasia. A second boy with primordial overgrowth and macrocephaly demonstrated some, but not all, the symptoms of this syndrome. Beckwithwiedemann syndrome is more common in women who have undergone in vitro fertilization to conceive. Does any member of your family have weaver syndrome or may be more predisposed to developing the condition. Since the release of the first version of the pdf file format, adobe systems has released multiple new versions to add additional features for example, in 1996, version 1. Beckwithwiedemann syndrome beckwithwiedemann syndrome bws has an incidence of 1,700 and is the most common overgrowth syndrome.
Two cases in the literaturereferred to as weaver syndromeexhibited nearly identical anomalies. At the age of 25, her height 187 cm, as well as her weight and head circumference, was above the 98th centile. Weaver syndrome mutations in ezh2 have been identified in patients with weaver syndrome. Apr 28, 2020 the resources on this site should not be used as a substitute for professional medical care or advice. Fine mapping for weaver syndrome in brown swiss cattle and. 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. We present a third description of a patient with weaver syndrome and neuroblastoma. Confirmation of a nonsynonymous snp in pnpla8 as a candidate. Weaver syndrome symptoms, diagnosis, treatments and causes. It is characterized by advanced osseous maturation and distinctive craniofacial, skeletal and neurological abnormalities. A number of different symptoms occur in weaver syndrome, however.
The prime anaesthetic difficulty associated with this case, namely a difficult airway, and other problems related to weavers syndrome, are discussed. 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. On the other hand, the sotos syndrome may be a cancer syndrome, the weaver syndrome not though a neuroblastoma was reported in the. Wernickekorsakoff syndrome wks and deficits associated. Incidence and outcomes of acute lung injury n engl j med.
A 3yearold boy from kelso has an extremely rare condition called weaver syndrome that puts his growth into hyper drive. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry. 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. 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. Weaver syndrome makes 3yearold look like hes 8 youtube. Jun 22, 2015 this is a lecture about the genetic disease weaver syndrome for trainees and medical professionals. Sanger sequencing of ezh2 in a third classicallyaffected proband identified. A syndrome marked by symptoms similar to those in the weaver syndrome, with hyperprogesteronemia and maternal luteoma and one with cleft lip, accessory nipples, pectus excavatum, bifid xiphoid process, abnormal vertebral bodies, and inflexible right thumb are referred to as the weaverlike syndrome. The overgrowth syndromes refer to a heterogeneous group of conditions characterized by generalized excessive growth for gestational age. A boy with primordial overgrowth, macrocephaly, and anomalies of the face, nails, feet and skeleton is reported.
People with down syndrome often learn in different ways. Know the causes, symptoms, treatment of weaver syndrome. The overall incidence of fetal overgrowth is unknown but it is not rare. Many overgrowth syndromes are associated with anomalies, developmental delay, and a propensity for tumor development. Rare syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and lowpitched cry, and hypertonia with camptodactyly. Weaver and thad starner school of interactive computing georgia institute of technology atlanta, ga, usa 303320760 kimberly. Pmc free article greenberg f, wasiewski w, mccabe er. In many cases the distinction between symptoms of weaver syndrome and complications of weaver syndrome is unclear or arbitrary.
The nsd1 mutations in patients with weaver syndrome are in exons 5, 16, 19, 22 and 23. Weaver syndrome is an unusual pathological condition in which there is accelerated physical growth than normal. Sotos syndrome, which shows considerable phenotypic overlap with weaver syndrome, is caused by mutation in the nsd1 gene on chromosome 5q35. 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. Ganser, md, mph chairperson, indiana fasd prevention task force, medical director, maternal and child division indiana state department of health and childrens special health care services and indiana state department of health professor emeritus of medical genetics. A syndrome of accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and lowpitched cry, and hypertonia with camptodactyly.
Longview 3yearold living with exceptionally rare growth. Ezh2related overgrowth includes ezh2related weaver syndrome at one end of the spectrum and tall stature at the other. Users with questions about a personal health condition should consult with a qualified healthcare professional. 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.
For language access assistance, contact the ncats public information officer. 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. This is the second adult reported with weaver syndrome and provides documentation of the adult phenotype. Genetic considerations in the prenatal diagnosis of. Main symptoms of the weaver syndrome are increased birth weight, early overgrowth, macrocephaly, accelerated osseous maturation, typical facies, hoarse.
A syndrome that is considered a variant of the marshallsmith syndrome. Some researchers think, because there have been some cases of mildly affected mothers having sons who are more severely affected, that weaver syndrome may be inherited as an autosomal dominant trait with a genderlimited expression of symptoms, or an xlinked recessive trait. Weaver syndrome is a rare condition that is characterized primarily by tall. Weaver syndrome, type 2 definition of weaver syndrome. Weaver syndrome is a genetic disorder in which children show accelerated bone growth, advanced bone age and a characteristic appearance of the face. If you have problems viewing pdf files, download the latest version of adobe reader.
The incidence of beckwithwiedemann syndrome is about 1 in,700 livebirths cytrynbaum et al. The diagnosis may be more difficult to make in adolescents and adults if one uses criteria developed for facial manifestations in young children. This rapid growth usually starts before birth, and after birth it tends to accelerate more. Other weaver like syndromes include cohengibson syndrome cogis. It is similar to sotos syndrome and is classified as an overgrowth syndrome. Weaver williams syndrome genetic and rare diseases. Full text get a printable copy pdf file of the complete article 3. Weaver syndrome also called weaver williams syndrome is a congenital disorder associated with rapid growth beginning in the prenatal period, a characteristic facial appearance and certain skeletal features. Bovine progressive degenerative myeloencephalopathy. Two previous cases of neuroblastoma have been reported in children with weaver syndrome. It hasalso been referred to as weaverwilliams syndrome. Early growth due to weaver syndrome has left 3yearold gabriel shefchek, left, about as a tall as his 7yearold sister jada. The first page of the pdf of this article appears above. What is weaversmith syndromecausessymptomstreatment.
Individuals with weaversmith syndrome tend to mature faster than normal individuals of their age. The prime anaesthetic difficulty associated with this case, namely a difficult airway, and other problems related to weaver s syndrome, are discussed. The file format was standardized by the international organization for standardization iso in 2008. Jul 09, 2010 the average number of metabolic syndrome risk factors, however, did significantly decrease for women from 2. In addition, subsequent sanger sequencing of ezh2 in 300 additional patients with weaver syndrome or a nonspecific overgrowth syndrome identified 15 additional mutations missense, nonsense and frameshift 3. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. 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 wvs is a rare, multisystem disorder characterized by tall stature, a typical facial appearance hypertelorism, retrognathia and variable intellectual disability. How to recover deleted, unsaved or corrupted pdf file. A probable case of familial weaver syndrome associated.
Fetal alcohol syndrome fetal phenytoin dilantin syndrome neonatal abstinence syndrome up to 3 very low birth weight may 07, 2020 introduction. Usually starting before birth prenatal onset, physical growth and bone development maturation can occur more quickly than average. Underreporting of minor cases may underestimate its true incidence carlin et al. Weavers bottom is a form of bursitis that is usually caused by prolonged sitting on hard surfaces that press against the bones of the bottom or midbuttocks. In order to map weaver syndrome as a quantitative trait, phenotypes were converted into numerical values as follows. Three neoplasms have been reported in weaver syndrome. Helping hearing parents of deaf children learn american sign language kimberly a. After the intervention, that number had decreased to 10 6 women and 4 men p. 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 a child with phenotypic characteristics consistent with weaver syndrome, evaluation. It hasalso been referred to as weaver williams syndrome. Weaver syndrome is a rare autosomal dominant genetic disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. Weavers syndrome presented for surgery twice within a period of 6 weeks.
Weaver syndrome nord national organization for rare. It has also been referred to as weaverwilliams syndrome. Know the causes, symptoms, treatment and diagnosis of weaversmith syndrome. This test analyzes ezh2, which is the gene that is most commonly associated with weaver syndrome. This is a rare disorder characterized by faster than normal physical growth and bone development, distinct facial abnormalities, and developmental delays. This means that weaver syndrome, or a subtype of weaver syndrome, affects less than 200,000 people in the us population. Further symptoms are thin, deepset nails, talipes equinovarus, widened distal femora, and some minor abnormalities. Other signs and symptoms of the condition may include macrocephaly unusually large head size.
You may learn a little slower, or you may find it hard to learn. Ganser, md, mph chairperson, indiana fasd prevention task force, medical director, maternal and indiana state department of health, childrens special health care and indiana state department of health. Complications of weaver syndrome are secondary conditions, symptoms, or other disorders that are caused by weaver syndrome. Weaversmith syndrome is a congenital condition in which the affected child shows accelerated growth. Weaver s bottom is a form of bursitis that is usually caused by prolonged sitting on hard surfaces that press against the bones of the bottom or midbuttocks. Distinguishing features of weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deepset nails. Ezh2 analysis for weaver syndrome university of chicago. This is a lecture about the genetic disease weaver syndrome for trainees and medical professionals. Inflammation of the bursa that separates the gluteus maximus muscle of the buttocks from the underlying bony prominence of the bone that a person sits on ischial tuberosity. Most people with down syndrome learn things more slowly. They suggested that in the early years of life the. Other symptoms can include increased muscle tone hypertonia with exaggerated reflexes spasticity, slow development of voluntary movements psychomotor.
Jan 12, 2016 weaver syndrome ws is a rare congenital disorder characterized by generalized overgrowth, macrocephaly, specific facial features, accelerated bone age, intellectual disability, and susceptibility to cancers. Weaver syndrome and instability of the upper cervical spine. Weaver syndrome network nord national organization for. 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. Liu1, steve schroeder1, lakshmi matukumalli1, curt van tassell1, tad sonstegard1. Whether this boy showed a milder expression of the weaver syndrome or benign familial macrocephaly is discussed. Individuals with weaver syndrome are characterized by pre and postnatal overgrowth with marked macrocephaly, advanced bone age, developmental delay and characteristic facial features 15. The same gene is mutated in more than threefourths of patients with another. We believe this to be the first documented case of bovine progressive degenerative myeloencephalopathy weaver syndrome in canada.
Mar 16, 2016 weaver syndrome is a rare condition that is characterized primarily by tall stature. Maybe you have a great memory and do not need to write things down to remember them. Confirmation of a nonsynonymous snp in pnpla8 as a. Scientists have found a gene that causes weaver syndrome, a rare genetic disorder. Gene discovered for weaver syndrome medical xpress. Here you can see if weaver syndrome can be hereditary. Weaver syndrome is a rare condition that is characterized primarily by tall stature. How are you treating patients with refractory hypoxemia.
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