Young Simpson syndrome
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--> | ICD9 = | ICDO = | OMIM = 603736 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = Young Simpson syndrome (YSS), is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation and postnatal growth retardation.http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&list_uids=10213038&dopt=Abstract Other symptoms include transient hypothyroidism, macular degeneration and torticollis.http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=10602125&ordinalpos=9&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum The condition was discovered in 1987 and the name arose from the individuals who first reported the syndrome. http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=3430551http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=9316295&ordinalpos=14&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum A individual with YSS has been identified with having symptoms to a similar syndrome known as Ohdo Blepharophimosis syndrome showing that it is quite difficult to diagnose the correct condition based on the symptoms present. http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=10955481&ordinalpos=8&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum Some doctors therefore consider the syndrome to be the same. http://www.cafamily.org.uk/Direct/o11.html The mode of inheritance has had mixed findings based on studies undertaken.http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=8474111&ordinalpos=15&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum One study showed that the parents of an individual with YSS are unrelated and phenotypically normal thus made it difficult to base the cause of the condition on genetic make up alone. Another study however with an individual of YSS had first cousins as parents, giving the possibility of autosomal recessive inheritance.
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