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Dwarfism occurs when an organism is exceptionally small. 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 122 centimetres, although some individuals with dwarfism are slightly taller. 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, although there are additional risks to mother and child, dependent upon the underlying condition.
Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders. Those with benign or familial macrocephaly are considered to have megalencephaly.
The term multiple endocrine neoplasia encompasses several distinct syndromes featuring tumors of endocrine glands, each with its own characteristic pattern. In some cases, the tumors are malignant, in others, benign. Benign or malignant tumors of nonendocrine tissues occur as components of some of these tumor syndromes.
The Clumber Spaniel is a breed of dog of the spaniel type, developed in the United Kingdom. It is the largest of the spaniels, and comes in predominantly white with either lemon or orange markings. The name of the breed is taken from Clumber Park in Nottinghamshire where the breed was first developed. It is a gundog that specialises in hunting in heavy cover. They are gentle and loyal, and can act aloof with strangers. They have several habits which could be considered disadvantages, including a constant shedding of its coat and snoring.
An osteosarcoma (OS) or osteogenic sarcoma (OGS) is a cancerous tumor in a bone. Specifically, it is an aggressive malignant neoplasm that arises from primitive transformed cells of mesenchymal origin and that exhibits osteoblastic differentiation and produces malignant osteoid.
Leukoplakia is a firmly attached white patch on a mucous membrane which is associated with increased risk of cancer. The edges of the lesion are typically abrupt and the lesion changes with time. Advanced forms may develop red patches. There are generally no other symptoms. It usually occurs within the mouth, although sometimes mucosa in other parts of the gastrointestinal tract, urinary tract, or genitals may be affected.
Hyperpigmentation is the darkening of an area of skin or nails caused by increased melanin.
Fibrous dysplasia is a disorder where normal bone and marrow is replaced with fibrous tissue, resulting in formation of bone that is weak and prone to expansion. As a result, most complications result from fracture, deformity, functional impairment, and pain. Disease occurs along a broad clinical spectrum ranging from asymptomatic, incidental lesions, to severe disabling disease. Disease can affect one bone (monostotic), multiple (polyostotic), or all bones (panostotic) and may occur in isolation or in combination with café au lait skin macules and hyperfunctioning endocrinopathies, termed McCune–Albright syndrome. More rarely, fibrous dysplasia may be associated with intramuscular myxomas, termed Mazabraud's syndrome. Fibrous dysplasia is very rare, and there is no known cure. Fibrous dysplasia is not a form of cancer.
Dysplasia is any of various types of abnormal growth or development of cells and/or organs, and/or the abnormal histology or anatomical structure presumably resulting from such growth. Dysplasias on a mainly microscopic scale include epithelial dysplasia and fibrous dysplasia of bone. Dysplasias on a mainly macroscopic scale include hip dysplasia, myelodysplastic syndrome, and multicystic dysplastic kidney.
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.
Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth. The collarbones are typically either poorly developed or absent, which allows the shoulders to be brought close together. The front of the skull often does not close until later, and those affected are often shorter than average. Other symptoms may include a prominent forehead, wide set eyes, abnormal teeth, and a flat nose. Symptoms vary among people; however, intelligence is typically unaffected.
Anodontia is a rare genetic disorder characterized by the congenital absence of all primary or permanent teeth. It is divided into two subsections, complete absence of teeth or only some absence of teeth. It is associated with the group of skin and nerve syndromes called the ectodermal dysplasias. Anodontia is usually part of a syndrome and seldom occurs as an isolated entity. There is usually no exact cause for anodontia. The defect results in the dental lamina obstruction during embryogenesis due to local, systemic and genetic factors.
Dentin dysplasia (DD) is a rare genetic developmental disorder affecting dentine production of the teeth, commonly exhibiting an autosomal dominant inheritance that causes malformation of the root. It affects both primary and permanent dentitions in approximately 1 in every 100,000 patients. It is characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology. Witkop in 1972 classified DD into two types which are Type I (DD-1) is the radicular type, and type II (DD-2) is the coronal type. DD-1 has been further divided into 4 different subtypes (DD-1a,1b,1c,1d) based on the radiographic features.
Hay–Wells syndrome is one of at least 150 known types of ectodermal dysplasia. These disorders affect tissues that arise from the ectodermal germ layer, such as skin, hair, and nails.
Monostotic fibrous dysplasia is a form of fibrous dysplasia where only one bone is involved. It comprises a majority of the cases of fibrous dysplasia.
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 is a protein that in humans is encoded by the SMARCAL1 gene.
Focal dermal hypoplasia is a form of ectodermal dysplasia. It is a multisystem disorder characterized primarily by skin manifestations to the atrophic and hypoplastic areas of skin which are present at birth. These defects manifest as yellow-pink bumps on the skin and pigmentation changes. The disorder is also associated with shortness of stature and some evidence suggests that it can cause epilepsy.
Trevor disease, also known as dysplasia epiphysealis hemimelica and Trevor's disease, is a congenital bone developmental disorder. There is 1 case per million population. The condition is three times more common in males than in females.
Terminal osseous dysplasia with pigmentary defects is a cutaneous condition characterized by hyperpigmented, atrophic facial macules.
Opsismodysplasia is a type of skeletal dysplasia first described by Zonana and associates in 1977, and designated under its current name by Maroteaux (1984). Derived from the Greek opsismos ("late"), the name "opsismodysplasia" describes a delay in bone maturation. In addition to this delay, the disorder is characterized by micromelia, particularly of the hands and feet, delay of ossification, platyspondyly, irregular metaphyses, an array of facial aberrations and respiratory distress related to chronic infection. Opsismodysplasia is congenital, being apparent at birth. It has a variable mortality, with some affected individuals living to adulthood. The disorder is rare, with an incidence of less than 1 per 1,000,000 worldwide. It is inherited in an autosomal recessive pattern, which means the defective (mutated) gene that causes the disorder is located on an autosome, and the disorder occurs when two copies of this defective gene are inherited. No specific gene has been found to be associated with the disorder. It is similar to spondylometaphyseal dysplasia, Sedaghatian type.
References
- ↑ "Schimke immunoosseous dysplasia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
- ↑ Burns, Tony; Breathnach, Stephen M.; Cox, Neil; Griffiths, Christopher (2008-04-15). Rook's Textbook of Dermatology. John Wiley & Sons. p. 39. ISBN 978-1-4051-4104-8.
- ↑ Sullivan, Kathleen E.; Stiehm, E. Richard (2014-08-08). Stiehm's Immune Deficiencies. Academic Press. p. 185. ISBN 978-0-12-405860-6.
- ↑ "Schimke Immuno-osseous Dysplasia (SIOD) - Stanford Children's Health". www.stanfordchildrens.org. Retrieved 2021-09-09.
- 1 2 "Schimke Immuno-Osseous Dysplasia". NORD (National Organization for Rare Disorders). Retrieved 2021-09-09.
- ↑ "Schimke immuno-osseous dysplasia: MedlinePlus Genetics". medlineplus.gov. Retrieved 2021-07-11.
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