| 词条 | Fryns-Aftimos syndrome |
| 释义 |
| name = Fryns-Aftimos syndrome | synonyms = Cerebro-oculo-facial-lymphatic syndrome | image = | alt = | caption = | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Fryns-Aftimos syndrome is rare chromosomal condition and is associated with pachygyria, severe mental retardation, epilepsy and characteristic facial features. This syndrome has been seen in 30 unrelated people.[1] PresentationThose who have diagnosed condition have differing degrees of the following: {{columns-list|colwidth=30em|
Other less common features of this disorder are:
More serious cases may exhibit:
}} Etiology"BWS is a genetically heterogeneous disorder, caused by a heterozygous mutation in one of the 2 genes coding for ubiquitously expressed actins: ACTB, located to 7p22-p12 (BRWS1) and ACTG1 on 17q25.3 (BRWS2). All mutations are missense and probably act by a gain of function mechanism, as deletions of the same genes do not result in BWS phenotype."[1] Diagnosis{{Empty section|date=December 2017}}Treatment{{Empty section|date=December 2017}}See also
References1. ^1 2 3 4 {{cite journal|title=Fryns-Aftimos syndrome with milder clinical manifestations|first1=Ian M.|last1=Hayes|first2=David|last2=Perry|first3=Salim|last3=Aftimos|date=1 April 2009|publisher=|journal=Clinical Dysmorphology|volume=18|issue=2|pages=95–97|accessdate=|pmid=19449464}} External links{{Medical resources| ICD10 = Q04.3 | ICD9 = | ICDO = | OMIM = 606155 | DiseasesDB = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeSH = | GeneReviewsNBK = | GeneReviewsName = | Orphanet = 94084 }}
3 : Cytogenetics|Chromosomal abnormalities|Rare syndromes |
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