| 词条 | Hypochondroplasia |
| 释义 |
| name = Hypochondroplasia | synonyms = | image = File:Autosomal dominant - en.svg | caption = Hypochondroplasia is autosomal dominant in inheritance. | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = FGFR3 gene mutation[1] | risks = | diagnosis = Physical finding, X-ray[2] | differential = | prevention = | treatment = Special education, Laminectomy [3] | medication = | prognosis = | frequency = | deaths = }}Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia[1] and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism.[2][3] Signs and symptomsIndividuals affected by this disorder appear normal at birth. As the infant grows, however, their arms and legs do not develop properly, and their body becomes thicker and shorter than normal.[1] The following are characteristics consistent with this condition:[4]
CauseHypochondroplasia is transmitted as an autosomal dominant trait affecting the FGFR3 gene on chromosome 4p16.3. There is currently no cure for this condition.[2] PathophysiologyThis disorder results from mutations in the proximal tyrosine kinase domain of the FGFR3 gene.[1] This gene plays an important role in embryonic development, playing a part in regulating activities such as cell division, migration and differentiation.{{medical citation needed|date=December 2016}} Hypochondroplasia can result from p. Lys650Asn as well.[5][1] In FGFR3, some 20 different mutations have been associated to hypochondroplasia,[6] and it seems to have a role in skeletal dysplasia.[7] DiagnosisThe diagnosis of this condition can be done via X-rays (with lack of normal distance L1 to L5),[8] and additionally genetic testing is available to ascertain hypochondroplasia.[9] However, the physical characteristics are one of the most important in determining the condition.[1] TreatmentTreatment of hypochondroplasia usually takes the form of orthopedic surgery and physical therapy. Genetic counseling is advised for individuals and their families. Specifically in the case of spinal stenosis, one option is laminectomy.[1][4] PrognosisLife expectancy for individuals with hypochondroplasia is normal; the maximum height is about 147 cm, or 4.8 ft.[10] See also
References1. ^1 2 3 4 5 6 {{cite journal|last1=Bober|first1=Michael B.|last2=Bellus|first2=Gary A.|last3=Nikkel|first3=Sarah M.|last4=Tiller|first4=George E.|title=Hypochondroplasia|journal=GeneReviews(®)|date=1 January 1993|url=https://www.ncbi.nlm.nih.gov/books/NBK1477/|accessdate=18 December 2016}}update 2013 2. ^1 2 {{cite web |url=http://ghr.nlm.nih.gov/condition=hypochondroplasia |title=Hypochondroplasia - Genetics Home Reference |format= |website= |accessdate=2009-03-12}} 3. ^{{cite web|title=Dwarfism: MedlinePlus|url=https://medlineplus.gov/dwarfism.html|website=NIH|publisher=NIH|accessdate=21 December 2016}} 4. ^1 2 {{cite web|title=Hypochondroplasia {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|url=https://rarediseases.info.nih.gov/diseases/6724/hypochondroplasia|website=rarediseases.info.nih.gov|accessdate=21 December 2016}} 5. ^{{cite web|title=NM_000142.4(FGFR3):c.1950G>C (p.Lys650Asn) AND Hypochondroplasia - ClinVar - NCBI|url=https://www.ncbi.nlm.nih.gov/clinvar/RCV000017756/|website=www.ncbi.nlm.nih.gov|accessdate=21 December 2016}} 6. ^{{cite web|last1=Reference|first1=Genetics Home|title=FGFR3 gene|url=https://ghr.nlm.nih.gov/gene/FGFR3#conditions|website=Genetics Home Reference|accessdate=21 December 2016}} 7. ^{{cite journal |last1=Foldynova-Trantirkova |first1=Silvie |last2=Wilcox |first2=William R. |last3=Krejci |first3=Pavel |title=Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias |journal=Human Mutation |date=21 December 2016 |volume=33 |issue=1 |pages=29–41 |doi=10.1002/humu.21636|pmc=3240715 |issn=1059-7794 |pmid=22045636}} 8. ^{{cite web|title=OMIM Entry - # 146000 - HYPOCHONDROPLASIA; HCH|url=https://omim.org/entry/146000|website=omim.org|accessdate=21 December 2016}} 9. ^{{cite web|title=Hypochondroplasia - Conditions - GTR - NCBI|url=https://www.ncbi.nlm.nih.gov/gtr/conditions/C0410529/|website=www.ncbi.nlm.nih.gov|accessdate=21 December 2016}} 10. ^{{cite web|last1=RESERVED|first1=INSERM US14 -- ALL RIGHTS|title=Orphanet: Hypochondroplasia|url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=429|website=www.orpha.net|accessdate=21 December 2016}} Further reading
External links{{Medical resources| DiseasesDB = 32832 | ICD10 = {{ICD10|Q|77|4|q|65}} | ICD9 = | ICDO = | OMIM = 146000 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | GeneReviewsNBK = NBK1477 | GeneReviewsName = Hypochondroplasia }}{{Osteochondrodysplasia}}{{Receptor deficiencies}} 5 : Skeletal system|Growth disorders|Cell surface receptor deficiencies|Autosomal dominant disorders|Rare diseases |
| 随便看 |
|
开放百科全书收录14589846条英语、德语、日语等多语种百科知识，基本涵盖了大多数领域的百科知识，是一部内容自由、开放的电子版国际百科全书。