Wolf–Hirschhorn syndrome: Difference between revisions

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{{short description|A chromosomal deletion syndrome}}
{{DISPLAYTITLE:Wolf–Hirschhorn syndrome}}
{{Infobox medical condition (new)
| name            = Wolf-Hirschhorn syndrome
| synonyms        = '''Chromosome deletion Dillan 4p syndrome''', '''Pitt–Rogers–Danks syndrome''' ('''PRDS''') or '''Pitt syndrome''',<ref name=omim>{{OMIM|194190|Wolf-Hirschhorn syndrome}}</ref><ref name="Bolognia">{{cite book | last1 = Rapini | first1 = Ronald P. | last2 = Bolognia | first2 = Jean L. | last3 = Jorizzo | first3 = Joseph L. | name-list-format = vanc |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages=892, 894 |isbn=978-1-4160-2999-1 }}</ref>
| image          = Mia - whs.jpg
| alt            =
| caption        = Young girl with Wolf-Hirschhorn syndrome
| pronounce      =
| field          =
| symptoms        =
| complications  =
| onset          =
| duration        =
| types          =
| causes          =
| risks          =
| diagnosis      =
| differential    =
| prevention      =
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| medication      =
| prognosis      =
| frequency      =
| deaths          =
}}
'''Wolf–Hirschhorn syndrome''' ('''WHS'''), is a [[chromosomal deletion syndrome]] resulting from a partial deletion on the short arm of [[chromosome 4]] (del(4p16.3)).<ref name="Dufke_2000">{{cite journal | vauthors = Dufke A, Seidel J, Schöning M, Döbler-Neumann M, Kelbova C, Liehr T, Beensen V, Backsch C, Klein-Vogler U, Enders H | title = Microdeletion 4p16.3 in three unrelated patients with Wolf-Hirschhorn syndrome | journal = Cytogenetics and Cell Genetics | volume = 91 | issue = 1–4 | pages = 81–4 | year = 2000 | pmid = 11173835 | doi = 10.1159/000056823 }}</ref> Features include a distinct craniofacial phenotype and [[intellectual disability]].


==Signs and symptoms==
[[File:Mia_-_whs.jpg|thumb|right|A child with Wolf–Hirschhorn syndrome]]


The most common characteristics include a distinct craniofacial phenotype ([[microcephaly]], [[micrognathia]], short [[philtrum]], prominent [[glabella]], ocular [[hypertelorism]], [[dysplasia|dysplastic]] ears and periauricular tags), growth restriction, [[intellectual disability]], muscle hypotonia, seizures, and congenital heart defects. <ref name="pmid24979523"/>
'''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).
 
Less common characteristics include [[hypospadias]], [[colobomata]] of the iris, renal anomalies, and deafness.<ref>{{cite web | vauthors = Wieczorek D | title = Wolf-Hirschhorn syndrome | work = Orphanet encyclopedia | date = September 2003 | url = http://www.orpha.net/data/patho/GB/uk-WHS.pdf }}</ref> Antibody deficiencies are also common, including [[common variable immunodeficiency]] and IgA deficiency.  [[T-cell immunity]] is normal.<ref name="Hanley-Lopez_1998">{{cite journal | vauthors = Hanley-Lopez J, Estabrooks LL, Stiehm R | title = Antibody deficiency in Wolf-Hirschhorn syndrome | journal = The Journal of Pediatrics | volume = 133 | issue = 1 | pages = 141–3 | date = July 1998 | pmid = 9672528 | doi = 10.1016/S0022-3476(98)70194-5 }}</ref>


==Genetics==
==Genetics==
Wolf–Hirschhorn syndrome is a [[microdeletion syndrome]] caused by a [[Deletion (genetics)|deletion]] within HSA band 4p16.3 of the short arm of [[chromosome 4]], particularly in the region of [[WHSC1]] and [[WHSC2]].<ref name="Rauch_2001">{{cite journal | vauthors = Rauch A, Schellmoser S, Kraus C, Dörr HG, Trautmann U, Altherr MR, Pfeiffer RA, Reis A | title = First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation | journal = American Journal of Medical Genetics | volume = 99 | issue = 4 | pages = 338–42 | date = April 2001 | pmid = 11252005 | doi = 10.1002/ajmg.1203 }}</ref>
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.


About 87% of cases represent a ''de novo'' deletion, while about 13% are inherited from a parent with a [[Chromosomal translocation|chromosome translocation]].<ref name="pmid24979523">{{cite journal | vauthors = Paradowska-Stolarz AM | title = Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome | journal = Adv Clin Exp Med | volume = 23 | issue = 3 | pages = 485–9 | date = 2014 | pmid = 24979523 | doi = 10.17219/acem/24111 | doi-access = free }}</ref>  In the cases of familial transmission, there is a 2 to 1 excess of maternal transmission.  Of the ''de novo'' cases, 80% are paternally derived.
==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:


Severity of symptoms and expressed phenotype differ based on the amount of genetic material deleted. The critical region for determining the phenotype is at 4p16.3 and can often be detected through genetic testing and [[fluorescence in situ hybridization]] (FISH). [[Genetic testing]] and [[genetic counseling]] is offered to affected families.
* [[Microcephaly]]
* [[Hypertelorism]] (widely spaced eyes)
* [[Epicanthal folds]]
* [[Micrognathia]] (small jaw)
* [[Cleft lip and/or palate]]


==Diagnosis==
==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.


Initial diagnosis is based on distinct craniofacial phenotype after birth.<ref name="pmid24979523"/> Diagnosis of WHS is confirmed by the detection of a deletion in the WHSCR.
==Seizures==
Chromosomal microarray and Cytogenetic analysis.D4S96 or D4Z1 chromosome band 4p16.3–specific probe (Wolf-Hirschhorn region, Vysis, Inc) is available for FISH study.<ref name="pmid24979523"/>
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.


==Epidemiology==
==Diagnosis==
The minimum birth incidence has been estimated as 1 in 50,000.<ref name="pmid24979523"/>
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.
 
==History==
Wolf–Hirschhorn syndrome was first described in 1961 by the Austrian-born American pediatrician [[Kurt Hirschhorn]] and his colleagues.<ref name = "Hirschhorn_1961">{{cite journal | vauthors = Hirschhorn K, Cooper HL, Firschein IL | title = Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion | journal = Humangenetik | volume = 1 | issue = 5 | pages = 479–82 | year = 1961 | pmid = 5895684 | doi=10.1007/bf00279124}}</ref>
 
Thereafter, the syndrome gained worldwide attention after publications by the German geneticist Ulrich Wolf and his co-workers, specifically their articles in the German scientific magazine ''Humangenetik''.<ref name = "Hirschhorn_1961" /><ref name="Wolf _1965">{{cite journal | vauthors = Wolf U, Reinwein H, Porsch R, Schröter R, Baitsch H | title = [Deficiency on the short arms of a chromosome No. 4] | language = German | journal = Humangenetik | volume = 1 | issue = 5 | pages = 397–413 | year = 1965 | pmid = 5868696 }}</ref>


== References ==
==Management==
{{Reflist}}
There is no cure for Wolf–Hirschhorn syndrome, and treatment focuses on managing symptoms and improving quality of life. This may include:


== External links ==
* [[Physical therapy]] to improve motor skills
{{Medical resources
* [[Speech therapy]] to enhance communication abilities
|  DiseasesDB      = 32279
* [[Occupational therapy]] to assist with daily living skills
|  ICD10          = {{ICD10|Q|93|3|q|90}}
* [[Anticonvulsant medications]] to control seizures
|  ICD9            = {{ICD9|758.3}}
|  OMIM            = 194190
|  MedlinePlus    =
|  eMedicineSubj  = ped
|  eMedicineTopic  = 2446
|  MeSH=D054877
| GeneReviewsName=Wolf-Hirschhorn Syndrome
| GeneReviewsNBK=NBK1183
| Orphanet=280
}}
{{commons category}}


* https://www.ncbi.nlm.nih.gov/books/NBK1183/
==Prognosis==
* [http://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome Wolf-Hirschhorn syndrome] on  Genetics Home Reference
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.


{{Chromosomal abnormalities}}
==Related pages==
* [[Chromosomal deletion]]
* [[Genetic disorder]]
* [[Intellectual disability]]
* [[Seizure disorder]]


{{DEFAULTSORT:Wolf-Hirschhorn Syndrome}}
[[Category:Genetic disorders]]
[[Category:Autosomal monosomies and deletions]]
[[Category:Rare diseases]]
[[Category:Rare syndromes]]
[[Category:Genodermatoses]]
{{stb}}

Revision as of 11:07, 15 February 2025


A child with 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).

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.

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:

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.

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.

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.

Management

There is no cure for Wolf–Hirschhorn syndrome, and treatment focuses on managing symptoms and improving quality of life. This may include:

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.

Related pages

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