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Dwarfism is a condition wherein an organism is exceptionally small, and mostly occurs in the animal kingdom. In humans, it is sometimes defined as an adult height of less than 147 centimetres, regardless of sex; the average adult height among people with dwarfism is 120 centimetres (4 ft). Disproportionate dwarfism is characterized by either short limbs or a short torso. In cases of proportionate dwarfism, both the limbs and torso are unusually small. Intelligence is usually normal, and most have a nearly normal life expectancy. People with dwarfism can usually bear children, though there are additional risks to the mother and child depending upon the underlying condition.
Ellis–Van Creveld syndrome is a rare genetic disorder of the skeletal dysplasia type.
Short stature refers to a height of a human which is below typical. Whether a person is considered short depends on the context. Because of the lack of preciseness, there is often disagreement about the degree of shortness that should be called short. Dwarfism is the condition of being very short, often caused by a medical condition.
Kniest dysplasia is a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12. The COL2A1 gene is responsible for producing type II collagen. The mutation of COL2A1 gene leads to abnormal skeletal growth and problems with hearing and vision. What characterizes Kniest dysplasia from other type II osteochondrodysplasia is the level of severity and the dumb-bell shape of shortened long tubular bones.
Madelung's deformity is usually characterized by malformed wrists and wrist bones and is often associated with Léri-Weill dyschondrosteosis. It can be bilateral or just in the one wrist. It has only been recognized within the past hundred years. Named after Otto Wilhelm Madelung (1846–1926), a German surgeon, who described it in detail, it was noted by others. Guillaume Dupuytren mentioned it in 1834, Auguste Nélaton in 1847, and Joseph-François Malgaigne in 1855.
The short-stature homeobox gene (SHOX), also known as short-stature-homeobox-containing gene, is a gene located on both the X and Y chromosomes, which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency).
Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in dwarfism with short forearms and legs and a bayonet-like deformity of the forearms.
An osteochondrodysplasia, or skeletal dysplasia, is a disorder of the development of bone and cartilage. Osteochondrodysplasias are rare diseases. About 1 in 5,000 babies are born with some type of skeletal dysplasia. Nonetheless, if taken collectively, genetic skeletal dysplasias or osteochondrodysplasias comprise a recognizable group of genetically determined disorders with generalized skeletal affection. These disorders lead to disproportionate short stature and bone abnormalities, particularly in the arms, legs, and spine. Skeletal dysplasia can result in marked functional limitation and even mortality.
André Léri was a French neurologist born in Paris.
Renal dysplasia-limb defects syndrome, also known as Ulbright–Hodes syndrome, is a very rare autosomal recessive congenital disorder. It has been described in three infants, all of whom died shortly after birth.
Spondylocostal dysostosis, also known as Jarcho-Levin syndrome (JLS), is a rare, heritable axial skeleton growth disorder. It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis. Individuals with Jarcho-Levin typically appear to have a short trunk and neck, with arms appearing relatively long in comparison, and a slightly protuberant abdomen. Severely affected individuals may have life-threatening pulmonary complications due to deformities of the thorax. The syndrome was first described by Saul Jarcho and Paul M. Levin at Johns Hopkins University in 1938.
Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis, a distortion and twisting of the limbs, contractures of the large joints, malformations of the vertebrae and pelvis, and incontinence. The disease was first reported in 1970 by Leonard Langer and associates; they used the term parastremmatic from the Greek parastremma, or distorted limbs, to describe it. On X-rays, the disease is distinguished by a "flocky" or lace-like appearance to the bones. The disease is congenital, which means it is apparent at birth. It is caused by a mutation in the TRPV4 gene, located on chromosome 12 in humans. The disease is inherited in an autosomal dominant manner.
Langer Mesomelic Dysplasia (LMD) is a rare congenital disorder characterised by altered bone formation, which typically causes affected individuals to experience shortening of the bones of the extremities as well as an abnormally short stature.
Reardon-Hall-Slaney syndrome, also known as mesomelic dwarfism-cleft palate-camptodactyly is a rare genetic disorder which is characterized by mesomelic limb shortening and bowing, finger camptodactyly, skin dimpling, retrognathia and mandibular hypoplasia. Only 2 cases of this syndrome have been described in medical literature, both of those cases being a brother and sister who were born to consanguineous parents. This disorder is inherited in an autosomal recessive fashion.
References
- ↑ "mesomelia". The American Heritage® Medical Dictionary. Retrieved 8 February 2015.
- ↑ Weerakkody, Yuranga. "Mesomelia". Radiopaedia.org. Retrieved 8 February 2015.
- ↑ "Léri–Weill dyschondrosteosis". Whonamedit?. Retrieved 8 February 2015.
