Young Simpson syndrome

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Young Simpson syndrome
Classification and 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, indicating a sporadic mutation, thus making 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]

[edit] References

  1. ^ Young-Simpson syndrome: further delineation of a d...[Am J Med Genet. 1999] - PubMed Result
  2. ^ Disease ID 123 at NIH's Office of Rare Diseases
  3. ^ Young-Simpson syndrome comprising transient hypoth...[Am J Med Genet. 2000] - PubMed Result
  4. ^ Unknown syndrome: abnormal facies, congenital hear...[J Med Genet. 1987] - PubMed Result
  5. ^ a b c A Japanese boy with Young-Simpson syndrome. [Acta Paediatr Jpn. 1997] - PubMed Result
  6. ^ A boy with mental retardation, blepharophimosis an...[Clin Dysmorphol. 2000] - PubMed Result
  7. ^ OHDO SYNDROME: Contact a Family - for families with disabled children: information on rare syndromes and disorders
  8. ^ a b Parental consanguinity in the blepharophimosis, he...[J Med Genet. 1993] - PubMed Result
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