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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Hutchinson-Gilford progeroid syndrome (HGPS) is an extremely rare autosomal dominant genetic disorder in which symptoms resembling aspects of aging are manifested at an early age. [8] Its occurrence is usually the result of a sporadic germline mutation ; although HGPS is genetically dominant, people rarely live long enough to have children ...
The rate of Klinefelter syndrome among infertile males is 3.1%. The syndrome is the main cause of male hypogonadism. [67] One survey in the United Kingdom found that the majority of people with KS identify as male, however, a significant number have a different gender identity. [68] The prevalence of KS is higher than expected in transgender ...
Floating–Harbor syndrome, also known as Pelletier–Leisti syndrome, is a rare disease with fewer than 50 cases described in the literature. [1] It is usually diagnosed in early childhood and is characterized by the triad of proportionate short stature with delayed bone age, characteristic facial appearance, and delayed speech development.
Ovotesticular syndrome (also known as ovotesticular disorder or OT-DSD) is a rare congenital condition where an individual is born with both ovarian and testicular tissue. [1] [2] It is one of the rarest DSDs, with only 500 reported cases. [3] Commonly, one or both gonads is an ovotestis containing both types of tissue. [3]
Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. [3] Many parts of the body are affected. [ 3 ] Babies are often born small and have heart defects . [ 3 ]
Weaver syndrome is an extremely rare autosomal dominant genetic disorder associated with rapid growth beginning in the prenatal period and continuing through the toddler and youth years. It is characterized by advanced osseous maturation and distinctive craniofacial, skeletal and neurological abnormalities. [ 1 ]
Werner syndrome (WS) is a rare autosomal recessive disorder. [9] [10] It has a global incidence rate of less than 1 in 100,000 live births, [9] although incidences in Japan and Sardinia are higher, where it affects 1 in 20,000-40,000 and 1 in 50,000, respectively. [11] [12] As of 2006, there were approximately 1,300 reported cases of WS ...