Videos Web

Powered by NarviSearch ! :3

Wolf-Hirschhorn Syndrome: Symptoms & Causes - Cleveland Clinic

https://my.clevelandclinic.org/health/diseases/24230-wolf-hirschhorn-syndrome
Wolf-Hirschhorn syndrome can affect anyone since it's a genetic condition. Most cases aren't inherited, meaning your parent's don't pass the condition onto you. Instead, the condition is the result of a random (de novo) chromosome deletion during either egg or sperm development or early in embryonic development. People who experience a

Wolf-Hirschhorn syndrome - About the Disease - Genetic and Rare

https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome/
Wolf-Hirschhorn syndrome (WHS) is a genetic disorder that affects many parts of the body. The major features include a characteristic facial appearance, delayed growth and development, intellectual disability, low muscle tone (hypotonia), and seizures. Other features may include skeletal abnormalities, congenital heart defects, hearing loss

Wolf-Hirschhorn syndrome: MedlinePlus Genetics

https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome/
Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial features, delayed growth and development, intellectual disability, and seizures. Almost everyone with this disorder has distinctive facial features, including a broad nasal bridge, large and protruding

Wolf-Hirschhorn Syndrome Symptoms and Diagnosis - Verywell Health

https://www.verywellhealth.com/what-is-wolf-hirschhorn-syndrome-2860304
Wolf-Hirschhorn syndrome is a genetic disorder that can lead to birth defects and developmental problems. It results in distinctive facial features, short stature, intellectual disability, and abnormalities of several organ systems. It is a rare condition and the estimate of the syndrome being prevelant in 1 in 50,000 births is likely an

Wolf-Hirschhorn Syndrome: Causes, Symptoms, Diagnosis, Treatment - WebMD

https://www.webmd.com/children/wolf-hirschorn-syndrome
Wolf-Hirschhorn syndrome is a rare genetic condition caused when part of chromosome 4 is deleted during a baby's development. Find out if it can be prevented and treated.

Wolf-Hirschhorn Syndrome - Symptoms, Causes, Treatment | NORD

https://rarediseases.org/rare-diseases/wolf-hirschhorn-syndrome/
Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal disorder caused by a missing piece (partial deletion or monosomy) of the short arm of chromosome 4. Major symptoms may include extremely wide-set eyes (ocular hypertelorism) with a broad or beaked nose, a small head (microcephaly), low-set malformed ears, growth deficiency, heart

Wolf-Hirschhorn syndrome - Wikipedia

https://en.wikipedia.org/wiki/Wolf%E2%80%93Hirschhorn_syndrome
Genetics. Wolf-Hirschhorn syndrome is a microdeletion syndrome caused by a deletion within HSA band 4p16.3 of the short arm of chromosome 4, particularly in the region of WHSCR1 and WHSCR2. [7] The phenotypic characteristics of WHS are thought to be caused by the haploinsufficiency of the genes Wolf-Hirschhorn syndrome candidate 1 (WHSC1

Wolf-Hirschhorn Syndrome - Wolf-Hirschhorn Syndrome - Merck Manual

https://www.merckmanuals.com/home/children-s-health-issues/chromosome-and-gene-abnormalities/wolf-hirschhorn-syndrome
Symptoms of Wolf-Hirschhorn syndrome often include profound intellectual disability.. Children may also have epilepsy, a broad or beaked nose, scalp defects, drooping upper eyelids (ptosis) and gaps or fissures (colobomas) of the iris, cleft palate, and delayed bone development.. Boys may have undescended testes (cryptorchidism) and a misplaced opening of the urethra (hypospadias).

Wolf-Hirschhorn Syndrome - Children's Health Issues - MSD Manual

https://www.msdmanuals.com/en-au/home/children-s-health-issues/chromosome-and-gene-abnormalities/wolf-hirschhorn-syndrome
Wolf-Hirschhorn syndrome is a chromosomal deletion syndrome in which part of chromosome 4 is missing. (See also Overview of Chromosome and Gene Disorders .) In Wolf-Hirschhorn syndrome, part of chromosome 4 is missing. Children who survive into their 20s typically have severe disabilities. Many affected children die during infancy.

Wolf-Hirschhorn Syndrome - Children's Health Issues - MSD Manual

https://www.msdmanuals.com/en-gb/home/children-s-health-issues/chromosome-and-gene-abnormalities/wolf-hirschhorn-syndrome
Symptoms of Wolf-Hirschhorn syndrome often include profound intellectual disability. Children may also have epilepsy, a broad or beaked nose, scalp defects, drooping upper eyelids (ptosis) and gaps or fissures (colobomas) of the iris, cleft palate, and delayed bone development. Boys may have undescended testes (cryptorchidism) and a misplaced

Orphanet: Wolf-Hirschhorn syndrome

https://www.orpha.net/en/disease/detail/280
Wolf-Hirschhorn syndrome. Suggest an update. Disease definition. A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

Wolf-Hirschhorn Syndrome - MediFind

https://www.medifind.com/conditions/wolf-hirschhorn-syndrome/5530
What is the definition of Wolf-Hirschhorn Syndrome? Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial features, delayed growth and development, intellectual disability, and seizures.

Wolf-Hirschhorn Syndrome - MalaCards

https://www.malacards.org/card/wolf_hirschhorn_syndrome
Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with

Wolf-Hirschhorn Syndrome: Causes, Symptoms and Treatment - MedicineNet

https://www.medicinenet.com/wolf-hirschhorn_syndrome/article.htm
Wolf-Hirschhorn syndrome is a genetic disorder that is characterized by distinctive facial features, intellectual disabilities, and delayed growth. Learn the cause, risk factors, symptoms, diagnosis, treatment, and prognosis of WHS. ... The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome

Wolf-Hirschhorn syndrome: A review and update - PubMed

https://pubmed.ncbi.nlm.nih.gov/26239400/
Wolf-Hirschhorn Syndrome / therapy*. Since 4p- was first described in 1961, significant progress has been made in our understanding of this classic deletion disorder. We have been able to establish a more complete picture of the WHS phenotype associated with distal 4p monosomy, and we are working to delineate the phenotypic effects whe ….

Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8471045/
1. Introduction. Wolf-Hirschhorn syndrome (WHS) is a rare contiguous gene deletion syndrome (prevalence of 1:20,000-50,000 births, with a female to male ratio of 2:1 induced by the absence of the distal portion of the short arm of chromosome 4 [1,2].WHS presents a characteristic phenotype that includes intrauterine growth retardation and later on short stature, low weight, hypotonia

Wolf-Hirschhorn Syndrome - Physiopedia

https://www.physio-pedia.com/Wolf-Hirschhorn_Syndrome
Wolf-Hirschhorn syndrome (WHS), is a chromosomal deletion syndrome resulting from a partial/ complete deletion on the short arm of chromosome 4 (4p16.3), also called the Wolf-Hirschhorn critical region (WHCR). [1][2]It was first described in 1961 by Hirschhorn and subsequently in 1965 by Wolf, and is known as the first example of a classic human chromosomal deletion syndrome.

The delineation of the Wolf-Hirschhorn syndrome over six decades

https://pubmed.ncbi.nlm.nih.gov/34002939/
Since Hirschhorn's description in 1961, the history and chronology of the clinical, cytogenetic, and molecular characterization of Wolf-Hirschhorn syndrome (WHS) elegantly demonstrates the remarkable advances in genetic technology over the last six decades that have paralleled the delineation of the phenotype.

Wolf-Hirschhorn Syndrome - Children's Health Issues - MSD Manual

https://www.msdmanuals.com/home/children-s-health-issues/chromosome-and-gene-abnormalities/wolf-hirschhorn-syndrome
Symptoms of Wolf-Hirschhorn syndrome often include profound intellectual disability.. Children may also have epilepsy, a broad or beaked nose, scalp defects, drooping upper eyelids (ptosis) and gaps or fissures (colobomas) of the iris, cleft palate, and delayed bone development.. Boys may have undescended testes (cryptorchidism) and a misplaced opening of the urethra (hypospadias).

Human Genetics of Hypoplastic Left Heart Syndrome - PubMed

https://pubmed.ncbi.nlm.nih.gov/38884762/
Hypoplastic left heart syndrome (HLHS) is a severe congenital cardiovascular malformation characterized by hypoplasia of the left ventricle, aorta, and other structures on the left side of the heart. The pathologic definition includes atresia or stenosis of both the aortic and mitral valves. Despite

Wolf-Hirschhorn Syndrome - MediFind

https://www.medifind.com/conditions/wolf-hirschhorn-syndrome/4250
What is the definition of Wolf-Hirschhorn Syndrome? Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The major features of this disorder include a characteristic facial features, delayed growth and development, intellectual disability, and seizures.

What Is Wolf-Hirschhorn Syndrome? - iCliniq

https://www.icliniq.com/articles/genetic-disorders/wolf-hirschhorn-syndrome
Wolf-Hirschhorn Syndrome is a genetic condition manifesting in multiple areas of the body. The most commonly affected regions are the face, heart, brain, and stature. The disease can be diagnosed due to mild or overlapping symptoms with other diseases. The treatment is symptomatic and unique to the affected individual.

Wolf-Hirschhorn Syndrome - Children's Health Issues - MSD Manual

https://www.msdmanuals.com/en-sg/home/children-s-health-issues/chromosome-and-gene-abnormalities/wolf-hirschhorn-syndrome
Symptoms of Wolf-Hirschhorn syndrome often include profound intellectual disability . Children may also have epilepsy , a broad or beaked nose, scalp defects, drooping upper eyelids (ptosis) and gaps or fissures (colobomas) of the iris, cleft palate , and delayed bone development. Boys may have undescended testes (cryptorchidism) and a

Wolf-Hirschhorn syndrome - Medical Dictionary

https://medical-dictionary.thefreedictionary.com/Wolf-Hirschhorn+syndrome
a syndrome associated with partial deletion of the short arm of chromosome 4, characterized by an undersized head, increased distance between the eyes, epicanthus, cleft palate, a small receding mandible, low-set ears that are simplified in form, undescended testes, and hypospadias. Facial view of a 3-year-old child with the Wolf-Hirschhorn