The size of the deletion predicts the amount and severity of disease characteristics. Wolfhirschhorn syndrome genetic and rare diseases information. We know we have challenges ahead but we are trying to do our best to enjoy each and every moment with her. Wolfhirschhorn syndrome whs is a contiguous gene syndrome, caused by partial or complete deletion of the short arm of chromosome 4. May 11, 2017 wolf hirschhorn syndrome is an extremely rare genetic condition caused by partial or in some cases complete deletion of the short arm of chromosome 4. From the age of 0 to 2 years, when the greatest risk exists, with a 50% chance of dying, but exceeding the twoyear, life expectancy is greatly improved. Wolf hirschhorn syndrome whs is an extremely rare chromosomal anomaly characterized by partial deletion of the p arm of chromosome 4 4p16. The anomalies are due to the lack of chromosomal material from the top of one of the number 4 chromosomes. Wolfhirshhorn syndrome is caused by a partial deletion of the short arm of chromosome 4, particularly in the region of whsc1 and whsc2. What signs or symptoms may make you suspect you may have wolf hirschhorn syndrome. Wolfhirschhorn syndrome, 4p syndrome, partial deletion 4p, terminal deletion 4p disease name and synonyms wolfhirschhorn syndrome, 4p syndrome, partial deletion 4p excluded diseases other chromosomal aberrations diagnostic criteria definition wolfhirschhorn syndrome whs was first and independently published in 1965 by wolf et al. Apr 28, 2017 wolf hirschhorn syndrome whs is a genetic disorder that affects many parts of the body.
Pdf wolfhirschhorn syndrome whs is a congenital disorder associated with 4 chromosome. Life expectancy of people with wolfhirschhorn syndrome is difficult to predict since it varies according to the degree of disease. Online mendelian inheritance in man omim paradowskastolarz am. It is caused due to deletion of a section of chromosome 4. The major features include a characteristic facial appearance, delayed growth and development, intellectual disability, low muscle tone hypotonia, and seizures. Battaglia and carey 1998 also argued that the pittrogersdanks syndrome is essentially the same as wolf hirschhorn syndrome, i. Wolf hirschhorn syndrome, 4p syndrome, partial deletion 4p, terminal deletion 4p disease name and synonyms wolf hirschhorn syndrome, 4p syndrome, partial deletion 4p excluded diseases other chromosomal aberrations diagnostic criteria definition wolf hirschhorn syndrome whs was first and independently published in 1965 by wolf et al. Hirschhorn neckar, a town in hesse, germany hirschhorn, rhinelandpalatinate, a municipality in rhinelandpalatinate, germany. Wolfhirschhorn syndromecausessymptomstreatmentprognosis.
Dec 19, 2017 pdf download available wolfhirschhorn 4p syndrome. A previous admission for similar symptoms 10 months. The size of the deletion varies among affected individuals. Wolfhirschhorn syndrome whs is a genetic condition caused by loss of genetic material in the short arm of chromosome 4. Otologic manifestations of wolfhirschhorn syndrome. Wolfhirschhorn syndrome and 4p disorders, history and pathophysiology fra kurset. Wolfhirschhorn syndrome nord national organization for. Each individual with wolf hirschhorn syndrome is unique. Wolfhirschhorn syndrome whs is an extremely rare chromosomal disorder.
Wolfhirschhorn syndrome pictures, life expectancy, treatment. The presentation of this syndrome, however, varies depending on. Rezai s, wilansky j, gottimukkala s, chadee a, benamanhalli h, et al. Know the causes, symptoms, treatment and prognosis of wolf hirschhorn syndrome. Wolfhirschhorn syndrome whs is a rare clinical entity first described by wolf in 1961. Wolfhirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. The diagnosis of whs is established by the finding of a heterozygous deletion of the wolfhirschhorn syndrome critical region whscr on chromosome 4p16. Wolf hirschhorn syndrome comes in varying levels of severity depending on the size and location of the chromosome deletion. How to apply for disability with wolfhirschhorn syndrome. Jul 06, 2018 dec 19, 2017 pdf download available wolfhirschhorn 4p syndrome. Hirschhorn is derived from german composite word hirsch deer and horn horn, part of a deers antlers. A 31yearold gravida 2 partus 1 woman was referred at 29 weeks gestation with suspicion of intrauterine growth restriction. Wolfhirschhorn is a genetic syndrome caused by deleted or missing genetic materi al on the 4th. Joseph hirshhorn 18991981, latvianamerican entrepreneur, financier and art collector also see hirshhorn museum and sculpture garden kurt hirschhorn, researcher of wolfhirschhorn syndrome philippe hirschhorn 19461996, latvian violinist.
Wolf hirschhorn syndrome is an extremely rare chromosomal disorder in which the whscr wolf hirschhorn syndrome critical region on the short arm of chromosome 4 is missing deleted. The wolfhirschhorn syndrome whs is a wellknown, multiple malformation syndrome, which affects 1 in 50,000 live births with a 2. Wolf hirschhorn syndrome is a genetic disorder that is caused due to deletion of a part of the chromosome 4. Wolf hirschhorn syndrome is caused by a deletion of genetic material near the end of the short p arm of chromosome 4. Seizure and eeg patterns in wolf hirschhorn 4p syndrome. In our eyes, her wolfhirschhorn syndrome disability has somewhat dissipated as she is growing up. In 2 mentally retarded sisters and 2 other unrelated patients 1 male, 1 female, pitt et al. The disorder is characterized by a variety of unique symptoms and defects such as intellectual deficits, unusual facial features, seizures, severe developmental delays, and other kinds of congenital abnormalities. Dec 28, 2018 wolf hirschhorn syndrome whs is a genetic condition caused by loss of genetic material in the short arm of chromosome 4. Whs was first and independently described by wolf et al. Overview of important information about wolfhirschhorn syndrome.
The size of the deletion can vary among persons and determines the type and severity of the conditions. Wolfhirschhorn syndrome is a rare genetic disorder that results from a defect in a specific chromosome in the dna the short arm of chromosome 4. Wolfhirschhorn syndrome whs, is a chromosomal deletion syndrome resulting from a partial deletion from the short arm of chromosome 4 del4p16. The diagnosis of whs is established by the finding of a heterozygous deletion of the wolf hirschhorn syndrome critical region whscr on chromosome 4p16. Anaesthesia and wolfhirschhorn syndrome request pdf.
Wolf hirschhorn syndrome is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4 4p16. Life expectancy of people with wolf hirschhorn syndrome is difficult to predict since it varies according to the degree of disease. Wolfhirschhorn syndrome whs is an extremely rare chromosomal anomaly characterized by partial deletion of the p arm of chromosome 4 4p16. Shes been healthy, seizure free, and continuing to develop as a little girl. It is a characteristic phenotype resulting from a partial deletion of chromosomal material of the short arm of chromosome 4 signs and symptoms edit. Wolfhirschhorn syndrome definition of wolfhirschhorn.
Wolf hirshhorn syndrome is caused by a partial deletion of the short arm of chromosome 4, particularly in the region of whsc1 and whsc2. Wolfhirschhorn syndrome genetics home reference nih. It is characterized by several distinctive symptoms such as a unique and unusual facial appearance, intellectual disability, extreme developmental delays, seizures and several other forms of congenital defects. Natural history of wolfhirschhorn syndrome american academy.
For most parents and families looking to find information on wolfhirschhorn syndrome, this site provides a real insight into the children, the families, the challenges and the prognosis of this rare condition. Natural cure for wolfhirschhorn syndrome and alternative. Wolf hirschhorn syndrome refers to a phenotype resulting from a partial deletion of chromosomal material of the short arm of chromosome 4, this genetic heterogeneity leads to more or less severe phenotypes. Wolf hirschhorn syndrome kennedy krieger institute. Wolfhirschhorn syndrome whs is a very rare congenital disorder resulting from a partial deletion of the short arm of chromosome 4. Wolfhirschhorn syndrome is a microdeletion syndrome caused by a deletion within hsa band 4p16.
Wolfhirschhorn syndrome comes in varying levels of severity depending on the size and location of the chromosome deletion. It is a characteristic phenotype resulting from a partial deletion of chromosomal material of the short arm of chromosome 4. Clinical presentation there is a large clinical spectrum. Omim 194190, also known as deletion 4p and 4p syndrome, is a well known clinical condition caused by a partial deletion of the short arm of chromosome 4.
Wolfhirschhorn syndrome is characterized by severe growth and mental retardation, microcephaly, seizures and greek helmet facies, caused by partial deletion of the short arm of chromosome 4. They carry the genetic characteristics of each individual. Wolfhirschhorn syndrome whs is caused by a deletion of the band 4p16. Whsc1, nelfa letm1, pigg, ctbp1, fgfrl1 genes at the level of 4p16. Wolf hirschhorn syndrome whs is a rare clinical entity first described by wolf in 1961. Overview of important information about wolf hirschhorn syndrome. Jan 24, 2003 wolf hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 4p. Wolfhirschhorn syndrome is a rare syndrome, with an incidence of 1 in 50000 births. What is the life expectancy of someone with wolf hirschhorn. The partial deletion of that chromosome is at fault for wolfhirschhorn syndrome or whs. Whs is caused by a partial loss of genetic material from the distal portion of the p arm of chromosome 4 and is considered as a contiguous gene syndrome 3. This chromosomal change is sometimes written as 4p. Wolfhirschhorn syndrome whs is a genetic disorder that affects many. Wolf hirschhorn syndrome is due to a specific chromosomal deletion which is the cause of typical facial features and developmental delays.
In about 4045% of cases, the person with whs has an unbalanced translocation with both a deletion on chromosome 4 and an extra piece trisomy of part. Wolfhirschhorn syndrome radiology reference article. Wolf hirschhorn syndrome is a rare syndrome, with an incidence of 1 in 50000 births. Wolfhirschhorn syndrome is an extremely rare genetic condition caused by partial or in some cases complete deletion of the short arm of chromosome 4. Genotypephenotype characterization of wolfhirschhorn. It is found in approximately 1 in 50,000 births and is characterized by intrauterine growth restriction, broad nose, microcephaly, growth and mental deficiency, heart defects, ocular hypertelorism. Chromosomes are found in the nucleus of all body cells. The symptoms of this syndrome vary from person to person based the size and. Wolf hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Omim 194190, also known as deletion 4p and 4psyndrome, is a well known clinical condition caused by a partial deletion of the short arm of chromosome 4. The wolfhirschhorn syndrome is characterized by severe growth retardation and mental defect, microcephaly, greek helmet facies, and closure defects cleft lip or palate, coloboma of the eye, and cardiac septal defects hirschhorn et al. For most parents and families looking to find information on wolf hirschhorn syndrome, this site provides a real insight into the children, the families, the challenges and the prognosis of this rare condition. Know the causes, symptoms, treatment and prognosis of wolfhirschhorn syndrome.
Wolfhirschhorn syndrome is a condition that affects many parts of the body. Wolf hirschhorn syndrome and 4p disorders history and. The child was admitted to the hospital within 1 hour and 40 minutes of arrival. Prenatal diagnosis of wolfhirschhorn syndrome confirmed by.
Wolf hirschhorn syndrome whs is a very rare congenital disorder resulting from a partial deletion of the short arm of chromosome 4. Wolf hirschhorn syndrome is characterized by severe growth and mental retardation, microcephaly, seizures and greek helmet facies, caused by partial deletion of the short arm of chromosome 4. The wolf hirschhorn syndrome whs is a wellknown, multiple malformation syndrome, which affects 1 in 50,000 live births with a 2. Wolf hirschhorn syndrome, also known as deletion 4p and 4p syndrome was first described in 1961 by u. Wolfhirschhorn syndrome refers to a phenotype resulting from a partial deletion of chromosomal material of the short arm of chromosome 4, this genetic heterogeneity leads to more or less severe phenotypes. Wolfhirschhorn syndrome is a rare genetic condition caused when part of chromosome 4 is deleted during a babys development. Prenatal diagnosis of wolfhirschhorn syndrome 4p in. This syndrome was firstly reported in 1965 in published reports by wolf and hirschhorn. Wolfhirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 4p.
The diagnosis of wolfhirschhorn syndrome is established in a proband by. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for wolfhirschhorn syndrome. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay. Most individuals with wolfhirschhorn syndrome have some degree of development and intellectual delay, and are anywhere from mildly to severely affected. Hirshhorn museum and sculpture garden in washington, d. Wolfhirschhorn syndrome is caused by a deletion of genetic material near the end of the short p arm of chromosome 4. Ocular manifestations in wolfhirschhorn syndrome sciencedirect. Wolfhirschhorn syndrome otherwise known as the deletion 4p and 4p syndrome was first studied in 1961 by h. People who have experience in wolf hirschhorn syndrome offer advice of what things may make you suspicious and which doctor you should go to to receive treatment. The majority of whs cases are caused by a deletion of 4p16. Wolfhirschhorn syndrome is a genetic disorder that is caused due to deletion of a part of the chromosome 4. Wolfhirschhorn syndrome is a genetic condition that is present from birth. A chromosome disorder due to partial deletion of the short p arm of chromosome 4.
Prenatal and molecular cytogenetic characterization of wolfhirschhorn syndrome whs a segmental gain by an unequal crossingover or endjoining. The most common abnormalties seen include severe to profound mental retardation, microcephaly. We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 weeks of gestation. Whs is caused by a partial loss of genetic material from the distal portion of the p arm of chromosome 4 and is. Wolfhirschhorn syndrome nord national organization for rare. Pdf wolfhirschhorn syndrome whs, a case report and. Whsc1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism.
Aug 9, 2011 wolfhirschhorn syndrome whs is a malformation syndrome associated with. Prenatal diagnosis of wolfhirschhorn syndrome confirmed. Apparent deletion of short arms of one chromosome 4 or 5 in a child with defects of midline fusion. Suggested by adrev masters admin sweet victory as featured in spongebob squarepants. Each individual with wolfhirschhorn syndrome is unique. Wolf hirschhorn syndrome is a genetic condition that is present from birth. The loss is associated with early deficits in physical and mental development.
1245 856 1134 519 220 651 529 943 462 620 1306 1306 999 1054 1194 1205 225 818 31 940 1091 362 473 1343 1126 462 1218 268 1387 1342 1531 291 74 24 1389 276 1187 1071 1200 1288 1487 160 346