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Ectromelia
Ectromelia is a congenital condition where long bones are missing or underdeveloped. Examples include: * Amelia *Hemimelia *Phocomelia *Sirenomelia Sirenomelia, also called mermaid syndrome, is a rare congenital deformity in which the legs are fused together, giving the appearance of a mermaid's tail, hence the nickname. Classification Sirenomelia is classified by the skeletal structure ... References External links Congenital disorders of musculoskeletal system {{musculoskeletal-disease-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Long Bone
The long bones are those that are longer than they are wide. They are one of five types of bones: long, Short bone, short, Flat bone, flat, Irregular bone, irregular and Sesamoid bone, sesamoid. Long bones, especially the femur and tibia, are subjected to most of the load during daily activities and they are crucial for skeletal mobility. They grow primarily by elongation of the diaphysis, with an epiphysis at each end of the growing bone. The ends of epiphyses are covered with hyaline cartilage ("articular cartilage"). The longitudinal growth of long bones is a result of endochondral ossification at the epiphyseal plate. Bone growth in length is stimulated by the production of growth hormone (GH), a secretion of the Anterior pituitary, anterior lobe of the pituitary gland. The long bone category includes the femora, tibiae, and fibulae of the legs; the humerus, humeri, Radius (bone), radii, and ulnae of the arms; metacarpals and metatarsals of the hands and feet, the Phalanx bone ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amelia (birth Defect)
Amelia is the birth defect of lacking one or more limbs. It can also result in a shrunken or deformed limb. 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. A related term is meromelia, which is the partial absence of a limb or limbs. The term is from Greek ἀ- "lack of" plus μέλος (plural: μέλεα or μέλη) "limb" Symptoms The diagnosis of tetra-amelia syndrome is established clinically and can be made on routine prenatal ultrasonography. WNT3 is the only gene known to be associated with tetra-amelia syndrome. Molecular genetic testing on a clinical basis can be used to diagnose the incidence of the syndrome. The mutation detection frequency is unknown as only a limited number of families have been studied. Affected infants are often stillborn or die shortly after birth. Description Amelia may be present as an isolated defect, but it is often associated with major malformations ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hemimelia
Hemimelia comprises the following: * Fibular hemimelia, Congenital longitudinal deficiency of the fibula or fibular longitudinal meromelia * Tibial hemimelia, Congenital longitudinal deficiency of the tibia, Congenital aplasia and dysplasia of the tibia with intact fibula, Congenital longitudinal deficiency of the tibia or tibial longitudinal meromelia * Radial Hemimelia, Congenital longitudinal deficiency of the radius, radial clubhand, radial longitudinal meromelia or radial ray agenesis * Ulnar hemimelia The ulna (''pl''. ulnae or ulnas) is a long bone found in the forearm that stretches from the elbow to the smallest finger, and when in anatomical position, is found on the medial side of the forearm. That is, the ulna is on the same side of the ..., Congenital longitudinal deficiency of the ulna, ulnar clubhand or ulnar longitudinal meromelia References External links {{Phakomatoses and other congenital malformations not elsewhere classified Congenital disorders of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phocomelia
Phocomelia is a condition that involves malformations of human arms and legs. Although many factors can cause phocomelia, the prominent roots come from the use of the drug thalidomide and from genetic inheritance. Occurrence in an individual results in various abnormalities to the face, limbs, ears, nose, vessels and many other underdevelopments. Although operations may improve some abnormalities, many are not surgically treatable due to the lack of nerves and other related structures. The term is from Ancient Greek φώκη ''phōkē'', "seal (animal)" + ''-o-'' interfix + μέλος ''melos'', "limb" + English suffix ''-ia''). Phocomelia is an extremely rare congenital disorder involving malformation of the limbs (dysmelia). Étienne Geoffroy Saint-Hilaire coined the term in 1836. Signs and symptoms The symptoms of phocomelia syndrome are undeveloped limbs and absent pelvic bones; however, various abnormalities can occur to the limbs and bones. Usually the upper limbs are n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sirenomelia
Sirenomelia, also called mermaid syndrome, is a rare congenital deformity in which the legs are fused together, giving the appearance of a mermaid's tail, hence the nickname. Classification Sirenomelia is classified by the skeletal structure of the lower limb, ranging from class I, where all bones are present and only the soft tissues are fused, to class VII where the only bone present is a fused femur. It has also been classified as an expanded part of the VACTERL association and as a form of caudal regression syndrome. Presentation Sirenomelia is mainly characterized by the fusion of both legs with rotation of the fibula. It may include the absence of the lower spine, as well as abnormalities of the pelvis and renal organs. It was previously thought to be a severe form of sacral agensis/caudal regression syndrome, but more recent research confirms that these two conditions are not related. NORD has a separate report on caudal regression syndrome. In general, the more seve ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
