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Marfanoid–progeroid–lipodystrophy syndrome (MPL), also referred to as Marfan lipodystrophy syndrome (MFLS), is a variant of MFS in which Marfan symptoms are accompanied by features usually associated with neonatal progeroid syndrome (also referred to as Wiedemann–Rautenstrauch syndrome) in which the levels of white adipose tissue are ...
Marfanoid (or Marfanoid habitus) is a constellation of signs resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 of the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity.
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome ...
Unlike Marfan syndrome, the cardiovascular system and the lens of the eye are unaffected. [citation needed] Mucosal neuromas are the most consistent and distinctive feature, appearing in 100% of patients. [11] Usually there are numerous yellowish-white, sessile, painless nodules on the lips or tongue, with deeper lesions having normal coloration.
Lujan–Fryns syndrome (LFS) is an X-linked genetic disorder that causes mild to moderate intellectual disability and features described as Marfanoid habitus, referring to a group of physical characteristics similar to those found in Marfan syndrome. [4] [5] These features include a tall, thin stature and long, slender limbs. [5]
Signs and symptoms are also applied to physiological states outside the context of disease, as for example when referring to the signs and symptoms of pregnancy, or the symptoms of dehydration. Sometimes a disease may be present without showing any signs or symptoms when it is known as being asymptomatic . [ 13 ]
While some are only limited to testing for Goldberg–Shprintzen syndrome, a number of these genetic tests also test for Marfan syndrome and other syndromes closely related to Goldberg–Shprintzen syndrome. Others test for cleft lip/cleft palate, connective tissue disorders, or other symptoms that can be indicative of Goldberg–Shprintzen ...
Pierre Robin sequence [a] (/ p j ɛər r ɔː ˈ b æ̃ /; [3] abbreviated PRS) is a congenital defect observed in humans which is characterized by facial abnormalities.The three main features are micrognathia (abnormally small mandible), which causes glossoptosis (downwardly displaced or retracted tongue), which in turn causes breathing problems due to obstruction of the upper airway.