The anomalies are due to the lack of chromosomal material from the top of one of the number 4 chromosomes. It is caused due to deletion of a section of chromosome 4. Wolfhirschhorn syndrome is a rare genetic condition caused when part of chromosome 4 is deleted during a babys development. Wolf hirschhorn syndrome whs is a very rare congenital disorder resulting from a partial deletion of the short arm of chromosome 4. Overview of important information about wolf hirschhorn syndrome. Prenatal diagnosis of wolfhirschhorn syndrome 4p in. Wolf hirschhorn syndrome is caused by a deletion of genetic material near the end of the short p arm of chromosome 4. Wolfhirschhorn syndromecausessymptomstreatmentprognosis. Shes been healthy, seizure free, and continuing to develop as a little girl.
Wolf hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. 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. Overview of important information about wolfhirschhorn syndrome. 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. Wolfhirschhorn syndrome whs is a contiguous gene syndrome, caused by partial or complete deletion of the short arm of chromosome 4. 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. Natural cure for wolfhirschhorn syndrome and alternative. Wolfhirschhorn syndrome whs, is a chromosomal deletion syndrome resulting from a partial deletion from the short arm of chromosome 4 del4p16. 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. 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. Wolf hirschhorn syndrome and 4p disorders history and. Wolfhirschhorn syndrome and 4p disorders, history and pathophysiology fra kurset.
Wolf hirschhorn syndrome comes in varying levels of severity depending on the size and location of the chromosome deletion. The wolfhirschhorn syndrome whs is a wellknown, multiple malformation syndrome, which affects 1 in 50,000 live births with a 2. Wolfhirschhorn syndrome nord national organization for rare. Wolfhirschhorn syndrome comes in varying levels of severity depending on the size and location of the chromosome deletion. Suggested by adrev masters admin sweet victory as featured in spongebob squarepants.
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. 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. What signs or symptoms may make you suspect you may have wolf hirschhorn syndrome. The diagnosis of wolfhirschhorn syndrome is established in a proband by. Whs is caused by a partial loss of genetic material from the distal portion of the p arm of chromosome 4 and is. Apr 28, 2017 wolf hirschhorn syndrome whs is a genetic disorder that affects many parts of the body. It is a characteristic phenotype resulting from a partial deletion of chromosomal material of the short arm of chromosome 4. Wolfhirschhorn syndrome whs is an extremely rare chromosomal anomaly characterized by partial deletion of the p arm of chromosome 4 4p16. Wolf hirschhorn syndrome kennedy krieger institute. The size of the deletion can vary among persons and determines the type and severity of the conditions. Wolfhirschhorn syndrome is a microdeletion syndrome caused by a deletion within hsa band 4p16. Whsc1, nelfa letm1, pigg, ctbp1, fgfrl1 genes at the level of 4p16.
The wolf hirschhorn syndrome whs is a wellknown, multiple malformation syndrome, which affects 1 in 50,000 live births with a 2. Wolfhirschhorn syndrome whs is a genetic condition caused by loss of genetic material in the short arm of chromosome 4. Wolfhirschhorn is a genetic syndrome caused by deleted or missing genetic materi al on the 4th. Online mendelian inheritance in man omim paradowskastolarz am. Hirshhorn museum and sculpture garden in washington, d. Ocular manifestations in wolfhirschhorn syndrome sciencedirect. Apparent deletion of short arms of one chromosome 4 or 5 in a child with defects of midline fusion. How to apply for disability with wolfhirschhorn syndrome. 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 pictures, life expectancy, treatment. Wolf hirschhorn syndrome whs is an extremely rare chromosomal anomaly characterized by partial deletion of the p arm of chromosome 4 4p16. Wolfhirschhorn syndrome whs is a rare clinical entity first described by wolf in 1961. Wolfhirschhorn syndrome whs is a very rare congenital disorder resulting from a partial deletion of the short arm of chromosome 4. Pdf wolfhirschhorn syndrome whs, a case report and.
Each individual with wolf hirschhorn syndrome is unique. This chromosomal change is sometimes written as 4p. 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. Wolfhirshhorn syndrome is caused by a partial deletion of the short arm of chromosome 4, particularly in the region of whsc1 and whsc2. Chromosomes are found in the nucleus of all body cells. Hirschhorn is derived from german composite word hirsch deer and horn horn, part of a deers antlers. The diagnosis of whs is established by the finding of a heterozygous deletion of the wolf hirschhorn syndrome critical region whscr on chromosome 4p16. Dec 28, 2018 wolf hirschhorn syndrome whs is a genetic condition caused by loss of genetic material in the short arm of chromosome 4. Wolfhirschhorn syndrome otherwise known as the deletion 4p and 4p syndrome was first studied in 1961 by h. Pdf wolfhirschhorn syndrome whs is a congenital disorder associated with 4 chromosome. Wolfhirschhorn syndrome, also known as deletion 4p and 4p syndrome was first described in 1961 by u. Seizure and eeg patterns in wolf hirschhorn 4p syndrome. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for wolfhirschhorn syndrome. 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.
We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 weeks of gestation. A previous admission for similar symptoms 10 months. Wolfhirschhorn syndrome whs is a genetic disorder that affects many. Wolf hirschhorn syndrome is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4 4p16. Jan 24, 2003 wolf hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 4p. Wolfhirschhorn syndrome is caused by a deletion of genetic material near the end of the short p arm of chromosome 4. This syndrome was firstly reported in 1965 in published reports by wolf and hirschhorn. 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. Wolfhirschhorn syndrome radiology reference article. Dec 19, 2017 pdf download available wolfhirschhorn 4p syndrome.
A 31yearold gravida 2 partus 1 woman was referred at 29 weeks gestation with suspicion of intrauterine growth restriction. Life expectancy of people with wolf hirschhorn syndrome is difficult to predict since it varies according to the degree of disease. The loss is associated with early deficits in physical and mental development. The size of the deletion varies among affected individuals. 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. Whsc1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism.
We know we have challenges ahead but we are trying to do our best to enjoy each and every moment with her. The size of the deletion predicts the amount and severity of disease characteristics. A chromosome disorder due to partial deletion of the short p arm of chromosome 4. Rezai s, wilansky j, gottimukkala s, chadee a, benamanhalli h, et al. The most common abnormalties seen include severe to profound mental retardation, microcephaly. Wolfhirschhorn syndrome definition of wolfhirschhorn. The major features include a characteristic facial appearance, delayed growth and development, intellectual disability, low muscle tone hypotonia, and seizures. Aug 9, 2011 wolfhirschhorn syndrome whs is a malformation syndrome associated with. Because whs is so variable, treatment and intervention must be tailored to the.
What is the life expectancy of someone with wolf hirschhorn. The presentation of this syndrome, however, varies depending on. Wolfhirschhorn syndrome is a genetic disorder that is caused due to deletion of a part of the chromosome 4. 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. Genotypephenotype characterization of wolfhirschhorn. Know the causes, symptoms, treatment and prognosis of wolfhirschhorn syndrome. Otologic manifestations of wolfhirschhorn syndrome. 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. Wolfhirschhorn syndrome is an extremely rare genetic condition caused by partial or in some cases complete deletion of the short arm of chromosome 4. Wolf hirshhorn syndrome is caused by a partial deletion of the short arm of chromosome 4, particularly in the region of whsc1 and whsc2. Wolf hirschhorn syndrome whs is a rare clinical entity first described by wolf in 1961. It is a characteristic phenotype resulting from a partial deletion of chromosomal material of the short arm of chromosome 4 signs and symptoms edit. Battaglia and carey 1998 also argued that the pittrogersdanks syndrome is essentially the same as wolf hirschhorn syndrome, i.
Wolfhirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 4p. Wolfhirschhorn syndrome genetics home reference nih. Wolf hirschhorn syndrome is a genetic condition that is present from birth. Wolf hirschhorn syndrome is a genetic disorder that is caused due to deletion of a part of the chromosome 4. Each individual with wolfhirschhorn syndrome is unique. In our eyes, her wolfhirschhorn syndrome disability has somewhat dissipated as she is growing up. They carry the genetic characteristics of each individual. Clinical presentation there is a large clinical spectrum. 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. 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.
The partial deletion of that chromosome is at fault for wolfhirschhorn syndrome or whs. In 2 mentally retarded sisters and 2 other unrelated patients 1 male, 1 female, pitt et al. 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, also known as deletion 4p and 4p syndrome was first described in 1961 by u. Wolfhirschhorn syndrome nord national organization for. Whs was first and independently described by wolf et al. Hirschhorn neckar, a town in hesse, germany hirschhorn, rhinelandpalatinate, a municipality in rhinelandpalatinate, germany. Wolfhirschhorn syndrome whs is an extremely rare chromosomal disorder.
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. Wolfhirschhorn syndrome is a genetic condition that is present from birth. Prenatal diagnosis of wolfhirschhorn syndrome confirmed by. Prenatal diagnosis of wolfhirschhorn syndrome confirmed. 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. 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. The child was admitted to the hospital within 1 hour and 40 minutes of arrival.
Wolf hirschhorn syndrome is due to a specific chromosomal deletion which is the cause of typical facial features and developmental delays. 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. Anaesthesia and wolfhirschhorn syndrome request pdf. 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. 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. Jul 06, 2018 dec 19, 2017 pdf download available wolfhirschhorn 4p syndrome.
The majority of whs cases are caused by a deletion of 4p16. Life expectancy of people with wolfhirschhorn syndrome is difficult to predict since it varies according to the degree of disease. The symptoms of this syndrome vary from person to person based the size and. Know the causes, symptoms, treatment and prognosis of wolf hirschhorn syndrome. Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay. Wolfhirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Wolfhirschhorn syndrome genetic and rare diseases information. Prenatal and molecular cytogenetic characterization of wolfhirschhorn syndrome whs a segmental gain by an unequal crossingover or endjoining. Wolfhirschhorn syndrome whs is caused by a deletion of the band 4p16. Wolfhirschhorn syndrome is a condition that affects many parts of the body.
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