Young–Simpson syndrome
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| Synonyms | Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome, Say-Barber-Biesecker-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.[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] An 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 these syndromes 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, indicating a sporadic mutation, thus making it difficult to base the cause of the condition on genetic makeup alone.[5] However, another study was done of an individual with YSS who had first cousins as parents, giving the possibility of autosomal recessive inheritance.[8]
KAT6B[edit | edit source]
In 2011, it was demonstrated that de novo mutations in the gene KAT6B caused YSS.[9]
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