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Young Simpson syndrome

Young Simpson syndrome
Classification & external resources
OMIM 603736

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.[1][2] Other symptoms include transient hypothyroidism, macular degeneration and torticollis.[3] The condition was discovered in 1987 and the name arose from the individuals who first reported the syndrome. [4][5] 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. [6] Some doctors therefore consider the syndrome to be the same. [7] The mode of inheritance has had mixed findings based on studies undertaken.[5][8] 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. [5] Another study however with an individual of YSS had first cousins as parents, giving the possibility of autosomal recessive inheritance.[8]


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  2. ^ Disease ID 123 at NIH's Office of Rare Diseases
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  5. ^ a b c
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  8. ^ a b
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Young_Simpson_syndrome". A list of authors is available in Wikipedia.
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