Young Simpson syndrome
Encyclopedia
Young Simpson syndrome 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.
Congenital disorder
A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...
with symptoms including hypothyroidism
Hypothyroidism
Hypothyroidism is a condition in which the thyroid gland does not make enough thyroid hormone.Iodine deficiency is the most common cause of hypothyroidism worldwide but it can be caused by other causes such as several conditions of the thyroid gland or, less commonly, the pituitary gland or...
, heart defects, facial
Facial
A facial is a procedure involving a variety of skin treatments, including: steam, exfoliation, extraction, creams, lotions, facial masks, peels, and massage...
dysmorphism, cryptorchidism
Cryptorchidism
Cryptorchidism is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at...
in males, hypotonia
Hypotonia
Hypotonia is a state of low muscle tone , often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength...
, mental retardation
Mental retardation
Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
and postnatal
Postnatal
Postnatal is the period beginning immediately after the birth of a child and extending for about six weeks. Another term would be postpartum period, as it refers to the mother...
growth retardation.
Other symptoms include transient hypothyroidism, macular degeneration and torticollis
Torticollis
Torticollis, or wryneck, is a stiff neck associated with muscle spasm, classically causing lateral flexion contracture of the cervical spine musculature...
. 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
Mutation
In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...
, 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.