Wolf–Hirschhorn syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Wolf–Hirschhorn syndrome | |||
| image = [[File:Mia_-_whs.jpg|alt=Photo of a child with Wolf–Hirschhorn syndrome]] | |||
| caption = A child with Wolf–Hirschhorn syndrome | |||
| synonyms = 4p deletion syndrome, Pitt-Rogers-Danks syndrome, Pitt syndrome | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Growth delay]], [[intellectual disability]], [[seizures]], distinct facial features | |||
| onset = [[Prenatal]] | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] (deletion of part of [[chromosome 4]]) | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[karyotype]] | |||
| differential = [[Cri du chat syndrome]], [[Angelman syndrome]], [[Rett syndrome]] | |||
| prevention = | |||
| treatment = [[Supportive care]], [[seizure management]], [[physical therapy]] | |||
| medication = [[Anticonvulsants]] | |||
| prognosis = Variable | |||
| frequency = 1 in 50,000 births | |||
| deaths = | |||
}} | |||
{{DISPLAYTITLE:Wolf–Hirschhorn syndrome}} | {{DISPLAYTITLE:Wolf–Hirschhorn syndrome}} | ||
'''Wolf–Hirschhorn syndrome''' (WHS) is a genetic disorder characterized by a distinctive facial appearance, delayed growth and development, intellectual disability, and seizures. It is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4 (4p16.3). | '''Wolf–Hirschhorn syndrome''' (WHS) is a genetic disorder characterized by a distinctive facial appearance, delayed growth and development, intellectual disability, and seizures. It is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4 (4p16.3). | ||
==Genetics== | ==Genetics== | ||
Wolf–Hirschhorn syndrome is a result of a [[chromosomal deletion]] on the short arm of [[chromosome 4]]. The size of the deletion varies among affected individuals, and larger deletions tend to result in more severe symptoms. The critical region for WHS is located at 4p16.3, which includes several genes that are important for normal development. | Wolf–Hirschhorn syndrome is a result of a [[chromosomal deletion]] on the short arm of [[chromosome 4]]. The size of the deletion varies among affected individuals, and larger deletions tend to result in more severe symptoms. The critical region for WHS is located at 4p16.3, which includes several genes that are important for normal development. | ||
==Clinical Features== | ==Clinical Features== | ||
Individuals with Wolf–Hirschhorn syndrome often have a characteristic "Greek warrior helmet" facial appearance, which includes a broad, flat nasal bridge and a high forehead. Other common features include: | Individuals with Wolf–Hirschhorn syndrome often have a characteristic "Greek warrior helmet" facial appearance, which includes a broad, flat nasal bridge and a high forehead. Other common features include: | ||
* [[Microcephaly]] | * [[Microcephaly]] | ||
* [[Hypertelorism]] (widely spaced eyes) | * [[Hypertelorism]] (widely spaced eyes) | ||
| Line 16: | Line 32: | ||
* [[Micrognathia]] (small jaw) | * [[Micrognathia]] (small jaw) | ||
* [[Cleft lip and/or palate]] | * [[Cleft lip and/or palate]] | ||
==Developmental and Intellectual Disabilities== | ==Developmental and Intellectual Disabilities== | ||
Children with WHS typically experience significant developmental delays and intellectual disabilities. Motor skills such as sitting, standing, and walking are often delayed, and speech development is usually limited. Early intervention and special education programs can help improve outcomes for these children. | Children with WHS typically experience significant developmental delays and intellectual disabilities. Motor skills such as sitting, standing, and walking are often delayed, and speech development is usually limited. Early intervention and special education programs can help improve outcomes for these children. | ||
==Seizures== | ==Seizures== | ||
Seizures are a common feature of Wolf–Hirschhorn syndrome, occurring in a majority of affected individuals. These seizures can vary in type and severity, and they often begin in infancy or early childhood. Management of seizures typically involves [[antiepileptic drugs]] and regular monitoring by a healthcare professional. | Seizures are a common feature of Wolf–Hirschhorn syndrome, occurring in a majority of affected individuals. These seizures can vary in type and severity, and they often begin in infancy or early childhood. Management of seizures typically involves [[antiepileptic drugs]] and regular monitoring by a healthcare professional. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of Wolf–Hirschhorn syndrome is based on clinical features and confirmed by genetic testing. [[Karyotyping]] and [[fluorescence in situ hybridization]] (FISH) can be used to detect the chromosomal deletion. More recently, [[microarray analysis]] has become a common method for diagnosing WHS, as it can detect smaller deletions that may not be visible with traditional karyotyping. | Diagnosis of Wolf–Hirschhorn syndrome is based on clinical features and confirmed by genetic testing. [[Karyotyping]] and [[fluorescence in situ hybridization]] (FISH) can be used to detect the chromosomal deletion. More recently, [[microarray analysis]] has become a common method for diagnosing WHS, as it can detect smaller deletions that may not be visible with traditional karyotyping. | ||
==Management== | ==Management== | ||
There is no cure for Wolf–Hirschhorn syndrome, and treatment focuses on managing symptoms and improving quality of life. This may include: | There is no cure for Wolf–Hirschhorn syndrome, and treatment focuses on managing symptoms and improving quality of life. This may include: | ||
* [[Physical therapy]] to improve motor skills | * [[Physical therapy]] to improve motor skills | ||
* [[Speech therapy]] to enhance communication abilities | * [[Speech therapy]] to enhance communication abilities | ||
* [[Occupational therapy]] to assist with daily living skills | * [[Occupational therapy]] to assist with daily living skills | ||
* [[Anticonvulsant medications]] to control seizures | * [[Anticonvulsant medications]] to control seizures | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with Wolf–Hirschhorn syndrome varies depending on the severity of the condition and the presence of associated health issues. With appropriate medical care and support, many individuals with WHS can lead fulfilling lives. | The prognosis for individuals with Wolf–Hirschhorn syndrome varies depending on the severity of the condition and the presence of associated health issues. With appropriate medical care and support, many individuals with WHS can lead fulfilling lives. | ||
==See also== | |||
== | |||
* [[Chromosomal deletion]] | * [[Chromosomal deletion]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
* [[Intellectual disability]] | * [[Intellectual disability]] | ||
* [[Seizure disorder]] | * [[Seizure disorder]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 19:47, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Wolf–Hirschhorn syndrome | |
|---|---|
| |
| Synonyms | 4p deletion syndrome, Pitt-Rogers-Danks syndrome, Pitt syndrome |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Growth delay, intellectual disability, seizures, distinct facial features |
| Complications | N/A |
| Onset | Prenatal |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation (deletion of part of chromosome 4) |
| Risks | |
| Diagnosis | Genetic testing, karyotype |
| Differential diagnosis | Cri du chat syndrome, Angelman syndrome, Rett syndrome |
| Prevention | |
| Treatment | Supportive care, seizure management, physical therapy |
| Medication | Anticonvulsants |
| Prognosis | Variable |
| Frequency | 1 in 50,000 births |
| Deaths | |
Wolf–Hirschhorn syndrome (WHS) is a genetic disorder characterized by a distinctive facial appearance, delayed growth and development, intellectual disability, and seizures. It is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4 (4p16.3).
Genetics[edit]
Wolf–Hirschhorn syndrome is a result of a chromosomal deletion on the short arm of chromosome 4. The size of the deletion varies among affected individuals, and larger deletions tend to result in more severe symptoms. The critical region for WHS is located at 4p16.3, which includes several genes that are important for normal development.
Clinical Features[edit]
Individuals with Wolf–Hirschhorn syndrome often have a characteristic "Greek warrior helmet" facial appearance, which includes a broad, flat nasal bridge and a high forehead. Other common features include:
- Microcephaly
- Hypertelorism (widely spaced eyes)
- Epicanthal folds
- Micrognathia (small jaw)
- Cleft lip and/or palate
Developmental and Intellectual Disabilities[edit]
Children with WHS typically experience significant developmental delays and intellectual disabilities. Motor skills such as sitting, standing, and walking are often delayed, and speech development is usually limited. Early intervention and special education programs can help improve outcomes for these children.
Seizures[edit]
Seizures are a common feature of Wolf–Hirschhorn syndrome, occurring in a majority of affected individuals. These seizures can vary in type and severity, and they often begin in infancy or early childhood. Management of seizures typically involves antiepileptic drugs and regular monitoring by a healthcare professional.
Diagnosis[edit]
Diagnosis of Wolf–Hirschhorn syndrome is based on clinical features and confirmed by genetic testing. Karyotyping and fluorescence in situ hybridization (FISH) can be used to detect the chromosomal deletion. More recently, microarray analysis has become a common method for diagnosing WHS, as it can detect smaller deletions that may not be visible with traditional karyotyping.
Management[edit]
There is no cure for Wolf–Hirschhorn syndrome, and treatment focuses on managing symptoms and improving quality of life. This may include:
- Physical therapy to improve motor skills
- Speech therapy to enhance communication abilities
- Occupational therapy to assist with daily living skills
- Anticonvulsant medications to control seizures
Prognosis[edit]
The prognosis for individuals with Wolf–Hirschhorn syndrome varies depending on the severity of the condition and the presence of associated health issues. With appropriate medical care and support, many individuals with WHS can lead fulfilling lives.
