Some microdeletion syndromes are very rare, while others are more common such as digeorge syndrome, praderwilli syndrome, angelman syndrome, williams syndrome, and wolf hirschhorn syndrome. Wolfhirschhorn syndrome comes in varying levels of severity depending on the size and location of the chromosome deletion. Wolfhirschhorn syndrome article about wolfhirschhorn. Wolfhirschhorn syndrome genetics home reference nih. Wolfhirschhorn syndrome whs, also known as chromosome deletion dillan 4p syndrome, pittrogersdanks syndrome prds or pitt syndrome, is a chromosomal deletion syndrome resulting from a partial deletion from the short arm of chromosome 4 del4p16. Clinical presentation there is a large clinical spectrum. A case for cannabidiol in wolfhirschhorn syndrome seizure. Wolfhirschhorn syndrome whs is caused by a deletion of the band 4p16. Wolfhirschhorn syndrome is a microdeletion syndrome caused by a deletion within hsa band 4p16.
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. Wolfhirschhorn syndrome whs is a chromosomal dysmorphic syndrome first recognized and described by copper and hirschhorn in 1965 1. Features include a distinct craniofacial phenotype and intellectual disability. There are no reports in the literature of anaesthetic prob lems in these children. The diagnosis of whs is established by the finding of a heterozygous deletion of the wolfhirschhorn syndrome critical region whscr on. Wolfhirschhorn syndrome is an extremely rare genetic condition caused by partial or in some cases complete deletion of the short arm of chromosome 4. Wolfhirschhorn syndrome is a genetic disorder that is caused due to deletion of a part of the chromosome 4. Key words wolfhirschhorn syndrome, 4p syndrome, partial deletion 4p, terminal deletion 4p. 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. Wolfhirschhorn syndrome, also known as deletion 4p and 4p syndrome was first described in 1961 by u.
It is caused by a deletion of the distal part of the short arm of chromosome 4 4p16. Wolfhirschhorn syndrome definition of wolfhirschhorn. Wolfhirschhorn syndrome whs is characterized by typical craniofacial features in infancy consisting of greek warrior helmet appearance of the nose wide bridge of the nose continuing to the forehead, microcephaly, high anterior hairline with prominent glabella, widely spaced eyes, epicanthus, highly arched eyebrows, short philtrum, downturned corners of the mouth, micrognathia. It is likely that some individuals with the condition have never been diagnosed so.
Wolfhirschhorn syndrome is a genetic disorder that can lead to birth defects and developmental problems. 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. First clinically described in 1961 by hirschhorn and subsequently in 1965 by wolf, the 4p deletion syndrome, or wolfhirschhorn syndrome whs, is the first example of a classic human chromosomal deletion syndrome. Wolfhirschhorn syndrome whs is a rare developmental disorder caused by a partial deletion of the short arm of chromosome 4 4p. Wolfhirschhorn syndrome whs is a genetic disorder that affects many parts of the body. This deletion of the chromosome results in the baby having distinct facial features with wide set eyes, a small head which is a condition called microcephaly, a beaked nose, ear deformity along. Online mendelian inheritance in man omim paradowskastolarz am. Wolfhirschhorn syndrome is caused by a deletion of genetic material near the end of the short p arm of chromosome 4. Wolfhirschhorn syndrome whs, also known as wolfhirschhorn 4p syndrome, chromosome deletion, dillan 4p syndrome, pittrogersdanks syndrome prds or pitt syndrome, was first described in 1961 by americans herbert l. The wolfhirschhorn syndrome is a rare chromosomal abnormality in which there is deletion ofthe short arm of chromosome no. Wolfhirschhorn syndrome whs is a con genital disorder caused by microdeletion of the short arm of chromosome 4 del 4p16. The major features include a characteristic facial appearance, delayed growth and development, intellectual disability, low muscle tone hypotonia, and seizures. Since no other studies have reported the incidence of microdeletion syndromes for this region, we calculated the incidences based on our fish data for the seven year period from june 01, 2008 to. Wolfhirschhorn syndrome is a rare genetic condition caused when part of chromosome 4 is deleted during a babys development.
It is a characteristic phenotype resulting from a partial deletion of chromosomal material of the short arm of chromosome 4 signs and symptoms edit. All patients presented with the typical facial gestalt, microcephaly, and profound mental retardation. Request pdf wolfhirschhorn syndrome wolfhirschhorn syndrome whs is a chromosome 4p deletion syndrome, first described by cooper and hirschhorn in 1961, followed by the report of. Wolfhirschhorn syndrome radiology reference article. It results in distinctive facial features, short stature, intellectual disability, and abnormalities of several organ systems. 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. It is thought to affect 1 in 50,000 births with girls twice as likely to be affected as boys. 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. Wolf hirschhorn syndrome whs is a contiguous gene syndrome, caused by partial or complete deletion of the short arm of chromosome 4, particularly of 4p16. Wolf hirschhorn syndrome is a genetic disorder that is caused due to deletion of a part of the chromosome 4. It has an incidence of 120,000 150,000 live births, with higher incidence in females 2. Wolfhirschhorn syndrome whs is a contiguous gene syndrome, caused by partial or complete deletion of the short arm of chromosome 4, particularly of 4p16.
Apr 29, 2002 wolfhirschhorn syndrome whs is characterized by typical craniofacial features in infancy consisting of greek warrior helmet appearance of the nose wide bridge of the nose continuing to the forehead, microcephaly, high anterior hairline with prominent glabella, widely spaced eyes, epicanthus, highly arched eyebrows, short philtrum, downturned corners of the mouth, micrognathia, and. Editorwolfhirschhorn syndrome whs, first described independently in 1965 by wolf et al 1 and hirschhorn et al,2 is a well defined multiple congenital anomaliesmental retardation syndrome resulting from deletion involving chromosomal band 4p16. Wolfhirschhorn syndrome whs, also known as chromosome deletion 4p syndrome, pittrogersdanks syndrome prds or pitt syndrome, 1 2 was first described in 1961 by americans herbert l. The majority of whs cases are caused by a deletion of 4p16. Deletion of short arm of the chromosome 4 in a patient with wolfhirschhorn syndrome. Research article challenges in sensory integration and. Whsc1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism. Since no other studies have reported the incidence of microdeletion syndromes for this region, we calculated the incidences based on our fish data for the. 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. First clinically described in 1961 by hirschhorn and subsequently in 1965 by wolf, the 4p deletion syndrome, or wolf hirschhorn syndrome whs, is the first example of a classic human chromosomal deletion syndrome. Wolfhirschhorn syndrome wikipedia republished wiki 2. Aug 18, 2015 wolfhirschhorn syndrome is also known as chromosome 4p deletion syndrome, 4p syndrome, monosomy 4p syndrome. In 2 mentally retarded sisters and 2 other unrelated patients 1 male, 1 female, pitt et al. Whsc1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and.
Wolfhirschhorn syndrome whs is a wellknown chromosomal disorder attributable to partial deletion of the short arm of chromosome 4 4p. Pdf wolfhirschhorn syndrome whs, a case report and. Introduction wolf hirschhorn syndrome whs, omim 194190 is a multiorgan syndrome caused by pure deletions or complex rearrangements, mainly unbalanced translocations, of the short arm of chromosome 4, classifying whs as a contiguous gene syndrome 1. Wolf hirschhorn syndrome whs is a rare genetic condition that occurs when a small part of chromosome 4 is missing deleted. Malignant hyperthermia in the wolfhirschhorn syndrome. 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. Wolfhirschhorn syndromecausessymptomstreatmentprognosis. Effect of the size of the deletion and clinical manifestation.
Wolfhirschhorn syndrome whs is an extremely rare chromosomal anomaly characterized by partial deletion of the p arm of chromosome 4 4p16. Epileptic seizures are common, as are eye and renal abnormalities. Wolf and hirschhorn 16,17 described a genetic syndrome caused by a partial deletion of the short arm of chromosome 4 for the first time in 1965. This condition was described for the first time in 1965 by wolf et al. Wolfhirschhorn syndrome, 4p deletion, cleft lip, cleft palate.
Introduction wolfhirschhorn syndrome whs, omim 194190 is a multiorgan syndrome caused by pure deletions or complex rearrangements, mainly unbalanced translocations, of the short arm of chromosome 4, classifying whs as a contiguous gene syndrome 1. 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. Cooper and kurt hirschhorn 3 and, thereafter, gained worldwide attention by publications by the german ulrich wolf, and hirschhorn and their coworkers, specifically their articles in the german. Wolf hirschhorn syndrome an overview sciencedirect topics. Wolf hirschhorn syndrome is a genetic disorder that can lead to birth defects and developmental problems. 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. It is a characteristic phenotype resulting from a partial deletion of chromosomal material of the short arm of chromosome 4. Other features may include skeletal abnormalities, congenital heart defects, hearing loss, urinary tract malformations, andor structural brain.
She serves an associate editor of the american journal of medical genetics, part a. Wolfhirschhorn syndrome pictures, life expectancy, treatment. Wolfhirschhorn syndrome wolf hirschhorn syndrome classification and external resources icd 10 q93. Wolf hirschhorn syndrome comes in varying levels of severity depending on the size and location of the chromosome deletion. Sindromewolf hirschhornuriel galvangilberto mendoza 2. Wolf hirschhorn syndrome is caused by a deletion of genetic material near the end of the short p arm of chromosome 4. Wolfhirschhorn syndrome whs is a congenital malformation syndrome characterized by growth deficiency and varying developmental delays based on genomic deletions and characteristic facies. Wolfhirschhorn syndrome whs is a rare genetic condition that occurs when a small part of chromosome 4 is missing deleted. Media in category wolfhirschhorn syndrome the following 4 files are in this category, out of 4 total. The most common abnormalties seen include severe to profound mental retardation, microcephaly. In the cases of familial transmission, there is a 2 to 1 excess of maternal transmission. Dravet syndrome commentary wolf hirschhorn syndrome whs. Natural history of wolfhirschhorn syndrome american academy.
Wolf hirschhorn syndrome whs is a genetic disorder that affects many parts of the body. Some microdeletion syndromes are very rare, while others are more common such as digeorge syndrome, praderwilli syndrome, angelman syndrome, williams syndrome, and wolfhirschhorn syndrome. 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. Lalani, in cardioskeletal myopathies in children and young adults, 2017. Rezai s, wilansky j, gottimukkala s, chadee a, benamanhalli h, et al. Children with whs have characteristic greek warrior helmet craniofacial dysmorphism, intellectual disability. The presentation of this syndrome, however, varies depending on. Wolf hirschhorn syndrome, also known as deletion 4p and 4p syndrome was first described in 1961 by u. Wolf hirschhorn syndrome whs is an extremely rare chromosomal anomaly characterized by partial deletion of the p arm of chromosome 4 4p16. This chromosomal change is sometimes written as 4p. The size of the deletion varies among affected individuals. Challenges in sensory integration and processing in the child with wolf hirsc hhorn syndrome. Enable javascript to view the expandcollapse boxes.
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