• Congenital disorders of glycosylation (CDG), formerly called carbohydrate-deficient glycoprotein syndrome, are a rapidly expanding family of multisystem genetic diseases caused by defects in the biosynthesis of the glycan moiety of glycoproteins and other glycoconjugates. (renalandurologynews.com)
  • Disorders affecting O -glycosylation defects are associated with different forms of muscular dystrophy such as Walker-Warburg syndrome, muscle-eye-brain disease, Fukuyama congenital muscular dystrophy, limb-girdle muscular dystrophy type 2I, and congenital muscular dystrophy type 1D. (renalandurologynews.com)
  • Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability. (mendelian.co)
  • We describe a rare case of primary localized cutaneous amyloidosis with lichen and poikiloderma-like lesions that showed an excellent response to systemic acitretin. (bvsalud.org)
  • In addition, in infants with the disorder, bones of the forehead (frontal bones) and the sides of the skull (parietal bones) are abnormally prominent (frontal and bi-parietal bossing), while the facial bones are unusually small and underdeveloped (hypoplastic). (rarediseases.org)
  • In both these very rare disorders the face looks abnormally old and surgery can help improve the appearance of the face. (healthpedian.org)
  • It goes without saying that the more common reason is to revive the face for cosmetic purposes by hiding the signs of aging, especially in older, sun-damaged skin or skin damaged by years of smoking. (healthpedian.org)
  • As the years go by, gravity and aging of the skin are slowly changing the appearance of the face. (healthpedian.org)
  • Aging of the skin, on the other hand, shows up as fine wrinkles and irregular skin pigmentation. (healthpedian.org)
  • There is also a generalised speeding-up of the aging process in sun-damaged skin, while similar changes are also seen with prolonged and heavy smoking. (healthpedian.org)
  • Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects. (mendelian.co)
  • In addition, in infants and children with the disorder, the abdomen may appear unusually large and prominent. (rarediseases.org)
  • In addition, affected infants may have an unusually small, distinctively "beak-shaped" nose that becomes more pronounced with advancing age. (rarediseases.org)
  • In addition, in infants and children with the disorder, the lower eyelids may droop or turn outward (ectropion), exposing the thin, delicate mucous membranes that line the eyelids as well as a portion of the eyeballs (conjunctivae). (rarediseases.org)
  • Facial rejuvenation surgery refers to a variety of operations designed to reduce the signs of aging on the face. (healthpedian.org)
  • The two reasons why people choose to have facial rejuvenation surgery are to reverse the effects of aging and for medical reasons. (healthpedian.org)
  • 95 percent of the medical conditions on the RARE List™ do not have a single FDA approved drug treatment! (addiandcassi.com)
  • If you, a loved one, a friend or even an acquaintance suffers from one of the rare conditions on the RARE List™, I ask that you take action TODAY and join the 1 Million for RARE™ awareness campaign. (addiandcassi.com)
  • The GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy ( Tipton and Gorlin, 1984 ). (mendelian.co)