| 词条 | Wolf–Hirschhorn syndrome |
| 释义 |
| name = Wolf-Hirschhorn syndrome | synonyms = | image = Mia - whs.jpg | alt = | caption = Young girl with Wolf-Hirschhorn syndrome | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Wolf–Hirschhorn syndrome (WHS), also known as chromosome deletion Dillan 4p syndrome, Pitt–Rogers–Danks syndrome (PRDS) or Pitt syndrome,[1][2] is a chromosomal deletion syndrome resulting from a partial deletion from the short arm of chromosome 4 (del(4p16.3)).[3] Features include a distinct craniofacial phenotype and intellectual disability. Signs and symptomsThe most common characteristics include a distinct craniofacial phenotype (microcephaly, micrognathia, short philtrum, prominent glabella, ocular hypertelorism, dysplastic ears and periauricular tags), growth restriction, intellectual disability, muscle hypotonia, seizures, and congenital heart defects. Less common characteristics include hypospadias, colobomata of the iris, renal anomalies, and deafness.[4] Antibody deficiencies are also common, including common variable immunodeficiency and IgA deficiency. T-cell immunity is normal.[5] GeneticsWolf–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 {{Gene|WHSC1}} and {{Gene|WHSC2}}.[6] About 87% of cases represent a de novo deletion, while about 13% are inherited from a parent with a chromosome translocation. 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. 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. Diagnosis{{Empty section|date=February 2018}}EpidemiologyThe minimum birth incidence has been calculated as 1 in 95,896.[7] HistoryWolf–Hirschhorn syndrome was first described in 1961 by Americans Herbert L. Cooper and Kurt Hirschhorn[8] and, thereafter, gained worldwide attention by publications by the German Ulrich Wolf, and Hirschhorn and their co-workers, specifically their articles in the German scientific magazine Humangenetik.[8][9] References1. ^{{OMIM|194190|Wolf-Hirschhorn syndrome}} 2. ^{{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 }} 3. ^{{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 }} 4. ^{{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 }} 5. ^{{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 }} 6. ^{{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 }} 7. ^{{cite journal | vauthors = Shannon NL, Maltby EL, Rigby AS, Quarrell OW | title = An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality | journal = Journal of Medical Genetics | volume = 38 | issue = 10 | pages = 674–9 | date = October 2001 | pmid = 11584045 | doi = 10.1136/jmg.38.10.674 | pmc = 1734744 }} 8. ^1 {{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 }} 9. ^{{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 }} External links{{Medical resources| DiseasesDB = 32279 | ICD10 = {{ICD10|Q|93|3|q|90}} | ICD9 = {{ICD9|758.3}} | OMIM = 194190 | MedlinePlus = | eMedicineSubj = ped | eMedicineTopic = 2446 | MeSH=D054877 | GeneReviewsName=Wolf-Hirschhorn Syndrome | GeneReviewsNBK=NBK1183 | Orphanet=280 }}{{commons category}}
3 : Autosomal monosomies and deletions|Rare syndromes|Genodermatoses |
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