Young Simpson syndrome

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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 Young-Simpson syndrome: further delineation of a d... [Am J Med Genet. 1999 - PubMed Result ] ] [RareDiseases|123]

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 Young-Simpson syndrome comprising transient hypoth... [Am J Med Genet. 2000 - PubMed Result ] ] 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=3430551 Unknown syndrome: abnormal facies, congenital hear... [J Med Genet. 1987 - PubMed Result ] ] [http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=9316295&ordinalpos=14&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum A Japanese boy with Young-Simpson syndrome. [Acta Paediatr Jpn. 1997 - PubMed Result ] ] 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 A boy with mental retardation, blepharophimosis an... [Clin Dysmorphol. 2000 - PubMed Result ] ] Some doctors therefore consider the syndrome to be the same. [ [http://www.cafamily.org.uk/Direct/o11.html OHDO SYNDROME: Contact a Family - for families with disabled children: information on rare syndromes and disorders ] ]

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 Parental consanguinity in the blepharophimosis, he... [J Med Genet. 1993 - PubMed Result ] ] One study showed that the parents of an individual with YSS are unrelated and phenotypically normal, indicating a sporadic mutation, thus making 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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