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.
Other symptoms include transient hypothyroidism, macular degeneration and torticollis. The condition was discovered in 1987 and the name arose from the individuals who first reported the syndrome. 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. Some doctors therefore consider the syndrome to be the same.
The mode of inheritance has had mixed findings based on studies undertaken. 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.
Read more about Young Simpson Syndrome: KAT6B
Famous quotes containing the words young, simpson and/or syndrome:
“Oh! that’s in course—I do love him; why wouldn’t I? for he has a nice little room all decently furnished for any young woman to go into—besides the shop; and he never has the horses at all into the one we sleeps in, as is to be.”
—Anthony Trollope (1815–1882)
“The treasures of Cathay were never found.
In this America, this wilderness
Where the axe echoes with a lonely sound,
The generations labor to possess
And grave by grave we civilize the ground.”
—Louis Simpson (b. 1923)
“Women are taught that their main goal in life is to serve others—first men, and later, children. This prescription leads to enormous problems, for it is supposed to be carried out as if women did not have needs of their own, as if one could serve others without simultaneously attending to one’s own interests and desires. Carried to its “perfection,” it produces the martyr syndrome or the smothering wife and mother.”
—Jean Baker Miller (20th century)