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Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. [6][7][1] Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. [1] They also typically have exceptionally flexible joints and abnormally curved spines. [1] The most serious complications involve the heart and aorta, with an increased risk of mitral valve ...
Phocomelia is a congenital condition that involves malformations of human arms and legs which result in a flipper-like appendage. [ 1 ][ 2 ] A prominent cause of phocomelia is the mother being prescribed the use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined.
Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs. It is caused by a mutation in the ESCO2 gene.
Constriction ring syndrome (CRS) is a congenital disorder with unknown cause. Because of the unknown cause there are many different, and sometimes incorrect, names. It is a malformation due to intrauterine bands or rings that give deep grooves in, most commonly, distal extremities like fingers and toes. In rare cases the constriction ring can ...
Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by abnormally short arms and legs (rhizomelia), seizures, recurrent respiratory tract infections and congenital cataracts. The cause is a genetic mutation that results in low levels of plasmalogens, which are a type of lipid found in cell membranes ...
Amelia is the birth defect of lacking one or more limbs. [1][2] The term may be modified to indicate the number of legs or arms missing at birth, such as tetra-amelia for the absence of all four limbs. The term is from Ancient Greek ἀ- 'lack of' and μέλος 'limb'.
The severity and location of the deformities depended on how many days into the pregnancy the mother was before beginning treatment; thalidomide taken on the 20th day of pregnancy caused central brain damage, day 21 would damage the eyes, day 22 the ears and face, day 24 the arms, and leg damage would occur if taken up to day 28.
Rickets, scientific nomenclature: rachitis (from Greek ῥαχίτης rhakhítēs, [6] meaning 'in or of the spine'), is a condition that results in weak or soft bones in children and is caused by either dietary deficiency or genetic causes. [2] Symptoms include bowed legs, stunted growth, bone pain, large forehead, and trouble sleeping. [2][3] Complications may include bone deformities, bone ...