Prader–Willi syndrome is a rare, genetic disorder characterized especially by failure to thrive, short stature, mental retardation, hypotonia, functionally deficient gonads, and obesity.
The presentation of Prader-Willi syndrome depends upon the age of the patient. In fetal life: Reduced fetal movements and abnormal…
Hyperphenylalaninemia is a term encompassing various clinical entities that arise due to phenylalanine accumulation. Deficiency of phenylalanine hydroxylase and tetrahydrobiopterin (in a smaller number of cases) due to genetic mutations transferred by an autosomal recessive pattern is the underlying cause. Genetic…
Cartilage hair hypoplasia is a rare multisystemic genetic disorder demarcated by a short stature from birth, hypoplastic hair, various skeletal abnormalities and a variable degree of immunodeficiency that can be fatal in the absence of an early diagnosis. Clinical signs, results from imaging studies, and genetic testing…
"Scar Tissue" is the first single from the American rock band Red Hot Chili Peppers' seventh studio album Californication, released in 1999. It is one of their most successful songs, spending a then-record 16 consecutive weeks on top of the Billboard Hot Modern Rock Tracks chart, as well as 10 weeks at the top of…
Tuberous sclerosis, otherwise referred to as Bourneville's disease or tuberous sclerosis complex, is an inherited disease that affects multiple systems. It is an uncommon condition, which leads to the formation of many tumors in various locations of the body, which are non-malignant.
Tuberin and hamartin, the two…
Vitiligo is an acquired pigmentary disorder of the skin. It is characterized by circumscribed depigmented sections of skin. The cause of vitiligo is unknown and it is related to both genetic and nongenetic factors.
Vitiligo is signified by acquired white or hypopigmented macules or patches. Affected areas are generally…
Phenylketonuria is a well-known and recognized autosomal recessive disorder of phenylalanine metabolism that if not detected early may lead to mental retardation. The disorder is characterized by high serum levels of phenylalanine.
The cardinal clinical feature is mental retardation. The patients are asymptomatic until…
Vogt–Koyanagi–Harada disease (VKH), also known as Vogt–Koyanagi–Harada syndrome, uveomeningitis syndrome and uveomeningoencephalitic syndrome, is a multisystem disease of presumed autoimmune cause, that affects pigmented tissues, which have melanin. The most significant manifestation is bilateral, diffuse uveitis,…