Search results
Results From The WOW.Com Content Network
Sotos syndrome, also known as cerebral gigantism, is a condition that causes excessive physical growth and developmental delays. It is caused by mutations in the NSD1 gene and has an autosomal dominant inheritance pattern.
Marfan syndrome (MFS) is a multi-systemic disorder that affects the connective tissue, causing tall thin build, long limbs, flexible joints, and eye lens dislocation. It also increases the risk of heart and aorta complications, such as mitral valve prolapse and aortic aneurysm.
Ectrodactyly, or split hand/split foot malformation, is a rare congenital disorder of the hand or foot development. It can be caused by various gene defects and is often associated with other abnormalities. Learn more about the types, causes, and syndromes of ectrodactyly.
Arachnodactyly is a medical condition that causes abnormally long and slender fingers and toes. It can be present at birth or associated with certain genetic disorders, such as Marfan syndrome or Ehlers–Danlos syndromes.
Hand and foot defects seen in Saethre-Chotzen syndrome. Webbing between the second and third finger and between the second and third toes [2] Short fingers and toes (brachydactyly) [4] Broad thumb and/or a broad hallux (big toe) with a valgus deformity (outward angulation of the distal segment of a bone/joint) [6]
A genetic disorder with varied features and challenges, such as long eyebrows, small nose, developmental delay, and gastrointestinal problems. Learn about the causes, signs, symptoms, and genetic mutations of CdLS from this comprehensive article.
Polydactyly is an anomaly of extra fingers or toes, which can be inherited or sporadic. Learn about the three major types of polydactyly (postaxial, preaxial and central), the genetic mutations involved and the syndromes associated with them.
Phocomelia is a condition that causes underdeveloped or absent limbs, often affecting the arms and legs. It can be caused by thalidomide, a drug taken during pregnancy, or by genetic factors. Learn about the signs, symptoms, causes and treatment of phocomelia.