Detailed information on the condition can be found by going to the about wolf hirschhorn syndrome page on this site. The major features include a characteristic facial appearance, delayed growth and development, intellectual disability, low muscle tone hypotonia, and seizures. Wolfhirschhorn syndrome radiology reference article. They carry the genetic characteristics of each individual. In the cases of familial translocation, there is a 2 to 1 excess of maternal transmission. Wolfhirschhorn syndrome pictures, life expectancy, treatment. 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. Wolf hirschhorn syndrome comes in varying levels of. The trust is a registered charity and was formed in 1994 by a group of parents. Most individuals with wolf hirschhorn syndrome have some degree of development and intellectual delay, and are anywhere from mildly to severely affected. 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. Airway management in a patient with wolfhirschhorn syndrome. Wolfhirschhorn syndrome whs is a genetic disorder that affects many. It is caused due to deletion of a section of chromosome 4.
Wolfhirschhorn 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. 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. It results in distinctive facial features, short stature, intellectual disability, and abnormalities of several organ systems. We have collected epidemiological data to allow the calculation of birth incidence and mortality figures. Wolf hirschhorn syndrome whs is a rare clinical entity first described by wolf in 1961. Wolfhirschhorn syndromecausessymptomstreatmentprognosis. The loss is associated with early deficits in physical and mental development. 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 hirschhorn syndrome whs is a rare developmental disorder associated with hemizygous deletion of short arm of chromosome 4. Wolf hirschhorn syndrome whs is an extremely rare chromosomal anomaly characterized by partial deletion of the p arm of chromosome 4 4p16. Whereas, the prevalence of wolf hirschhorn syndrome is. Cooper and hirschhorn first documented wolfhirschhorn syndrome in 1961. Wolfhirschhorn syndrome is a rare genetic condition caused when part of chromosome 4 is deleted during a babys development. Resulted from the microdeletion of the wolfhirschhorn syndrome critical region whsc1 and whsc2 located on the short arm of ch. Wolf hirschhorn syndrome wolf hirschhorn is a genetic syndrome caused by deleted or missing genetic material on the 4th chromosome also known as 4p syndrome. Whereas, wolfhirschhorn syndrome is an incurable genetic condition that affects many parts of the body, including facial appearance and physical growth and development, and causes intellectual disability, low muscle tone, and seizures. Wolfhirschhorn syndrome an overview sciencedirect topics. Wolfhirschhorn syndrome comes in varying levels of severity depending on the size and location of the chromosome deletion. Wolffhirschorn syndrome definition of wolffhirschorn. Each individual with wolf hirschhorn syndrome is unique. Chromosomes are found in the nucleus of all body cells. Know the causes, symptoms, treatment and prognosis of wolfhirschhorn syndrome.
Other features may include skeletal abnormalities, congenital heart defects, hearing loss, urinary tract malformations, andor structural brain. Wolf hirschhorn syndrome is a condition that affects many parts of the body. Aug 18, 2015 wolf hirschhorn syndrome is also known as chromosome 4p deletion syndrome, 4p syndrome, monosomy 4p syndrome. Each individual with wolfhirschhorn syndrome is unique. We present a case of a 3monthold female with wolfhirschhorn syndrome whs undergoing general anesthesia for laparoscopic gastrostomy tube placement with a focus on airway management. The major features of this disorder include a characteristic facial appearance, delayed growth and development, intellectual disability, and seizures. The size of the deletion can vary among persons and determines the type and severity of the conditions. Wolfhirschhorn syndrome is due to a specific chromosomal deletion which is the cause of typical facial features and developmental delays. Features include a distinct craniofacial phenotype and intellectual disability. 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. Wolfhirschhorn syndrome is caused by a deletion of a segment on the short arm p of chromosome 4. Microcephaly, micrognathia, and glossoptosis are common features. Wolfhirschhorn syndrome whs, is a chromosomal deletion syndrome resulting from a partial deletion from the short arm of chromosome 4 del 4p16. Wolfhirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion.
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. The size of the deletion predicts the amount and severity of disease characteristics. Welcome to the wolf hirschhorn syndrome trust whst website. Clinical presentation there is a large clinical spectrum. An epidemiological study of wolfhirschhorn syndrome. Wolf hirschhorn syndrome whs is a chromosome deletion syndrome with a well delineated phenotype. Whereas, wolf hirschhorn syndrome is an incurable genetic condition that affects many parts of the body, including facial appearance and physical growth and development, and causes intellectual disability, low muscle tone, and seizures. Wolfhirschhorn syndrome is a condition that affects many parts of the body. There is a severe neurodevelopmental phenotype with a characteristic facial appearance and in some cases multiple congenital anomalies. This web site is a compilation of information, discussions, stories, events and pictures of the people that are touched by a very rare condition called wolfhirschhorn syndrome. Ocular manifestations in wolfhirschhorn syndrome sciencedirect. It is characterized by intellectual disabilities and the greek warrior helmet appearance of the nose and forehead, as well as multiple other defects skeletal, cardiovascular, and urogenital. Dec 29, 2014 resulted from the microdeletion of the wolf hirschhorn syndrome critical region whsc1 and whsc2 located on the short arm of ch.
Whs is a rare 4p microdeletion syndrome resulting in multiple congenital abnormalities, including craniofacial deformities. Most individuals with wolfhirschhorn syndrome have some degree of development and intellectual delay, and are anywhere from mildly to severely affected. It is characterized by intellectual disabilities and the greek warrior helmet appearance of the nose and forehead, as well as multiple other. Wolfhirschhorn syndrome whs is defined by characteristic dysmorphic features, including a prominent glabella, hypertelorism, a broad, beaked nose, and frontal bossing, collectively described as greek helmet facies 1. 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. Know the causes, symptoms, treatment and prognosis of wolf hirschhorn syndrome. Otologic manifestations of wolfhirschhorn syndrome. Wolfhirschhorn syndrome is a genetic disorder that is caused due to deletion of a part of the chromosome 4. 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.
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. Wolf hirschhorn syndrome wolfhirschhorn is a genetic syndrome caused by deleted or missing genetic material on the 4th chromosome also known as 4p syndrome. Wolf hirschhorn syndrome is a genetic condition that is present from birth. This web site is a compilation of information, discussions, stories, events and pictures of the people that are touched by a very rare condition called wolf hirschhorn syndrome. The anomalies are due to the lack of chromosomal material from the top of one of the number 4 chromosomes.
Overview of important information about wolf hirschhorn syndrome. Wolfhirschhorn syndrome definition of wolfhirschhorn. Wolf hirschhorn syndrome is a rare hereditary disease that results from a 4p chromosome deletion. Wolfhirschhorn syndrome whs is a rare developmental disorder associated with hemizygous deletion of short arm of chromosome 4. The original support group was started by the late chris hilder, a woman who had great tenacity and vision. Whereas, the prevalence of wolfhirschhorn syndrome is. Wolf hirschhorn syndrome is a genetic disorder that can lead to birth defects and developmental problems. Detailed information on the condition can be found by going to the about wolfhirschhorn syndrome page on this site. Wolf hirschhorn syndrome disease definition a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. It was first described by hirschhorn and cooper1 in 1961 in a child with midline fusion defects in association with deletion of a b group chromosome. Prenatal diagnosis of wolfhirschhorn syndrome 4p in. Dec 14, 2014 what are the different stages of dementia. Wolfhirschhorn syndrome whs is a disorder caused by irregularities on the short arm of chromosome 4 4p.
Jul 30, 2016 we present a case of a 3monthold female with wolf hirschhorn syndrome whs undergoing general anesthesia for laparoscopic gastrostomy tube placement with a focus on airway management. Apr 28, 2017 wolf hirschhorn syndrome whs is a genetic disorder that affects many parts of the body. Wolfhirschhorn syndrome nord national organization for. A chromosome disorder due to partial deletion of the short p arm of chromosome 4. Anaesthesia and wolfhirschhorn syndrome request pdf.
Patients with this syndrome are characterized by craniofacial dysgenesis, seizures, growth delay. 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. Objective early research into wolfhirschhorn syndrome whs described a high mortality and no relationship between deletion size and phenotype. Kendall update 2015 by kevino on january 23, 2015 9 comments in kendall its been almost exactly a year since i last posted an article about kendall on the wolf hirshhorn website. Overview of important information about wolfhirschhorn syndrome. They described a child with midline fusion defects, and subsequent cytogenetic studies revealed a chromosomal deletion of the short arm of chromosome 4. Wolfhirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 4p. Evaluation of communicative and functional abilities in. A 31yearold gravida 2 partus 1 woman was referred at 29 weeks gestation with suspicion of intrauterine growth restriction. Wolfhirschhorn syndrome whs is an extremely rare chromosomal anomaly characterized by partial deletion of the p arm of chromosome 4 4p16. The major features of this disorder include a characteristic facial appearance known as the greek helmet, delayed growth and development.
Wolf hirschhorn syndrome whs is a genetic disorder that affects many parts of the body. Wolfhirschhorn syndrome genetics home reference nih. Wolfhirschhorn syndrome comes in varying levels of. We report a case in which intrauterine growth restriction, hypospadias and foot deformity were detected by prenatal ultrasound examination at 29 weeks of gestation.
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 disease definition a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. 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. Wolf hirshhorn syndrome is caused by a partial deletion of the short arm of chromosome 4.
Wolfhirschhorn syndrome whs is caused by terminal deletions of the short arm of chromosome 4 del 4p16. Apr 28, 2019 cooper and hirschhorn first documented wolf hirschhorn syndrome in 1961. Wolfhirschhorn syndrome whs is a genetic condition caused by loss of genetic material in the short arm of chromosome 4. The majority of whs cases are caused by a deletion of 4p16. 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. Wolf hirschhorn syndrome is caused by distal deletion of the short arm of chromosome 4 4p. Apr 28, 2019 wolf hirschhorn syndrome whs is a disorder caused by irregularities on the short arm of chromosome 4 4p. Wolfhirschhorn syndrome is a genetic condition that is present from birth.
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