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A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development, or it can be inherited from two parents who are carriers of a faulty gene or from a parent with the disorder. When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA.
The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a specific gene depends on the number of copies of each chromosome found in that species, also referred to as ploidy. In diploid species like humans, two full sets of chromosomes are present, meaning each individual has two alleles for any given gene. If both alleles are the same, the genotype is referred to as homozygous. If the alleles are different, the genotype is referred to as heterozygous.
Osteopetrosis, literally "stone bone", also known as marble bone disease or Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften. Osteopetrosis can cause bones to dissolve and break.
Leigh syndrome is an inherited neurometabolic disorder that affects the central nervous system. It is named after Archibald Denis Leigh, a British neuropsychiatrist who first described the condition in 1951. Normal levels of thiamine, thiamine monophosphate, and thiamine diphosphate are commonly found, but there is a reduced or absent level of thiamine triphosphate. This is thought to be caused by a blockage in the enzyme thiamine-diphosphate kinase, and therefore treatment in some patients would be to take thiamine triphosphate daily. While the majority of patients typically exhibit symptoms between the ages of 3 and 12 months, instances of adult onset have also been documented.
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes, a white forelock or patches of light skin. These basic features constitute type 2 of the condition; in type 1, there is also a wider gap between the inner corners of the eyes called telecanthus, or dystopia canthorum. In type 3, which is rare, the arms and hands are also malformed, with permanent finger contractures or fused fingers, while in type 4, the person also has Hirschsprung's disease. There also exist at least two types that can result in central nervous system (CNS) symptoms such as developmental delay and muscle tone abnormalities.
Osteogenesis imperfecta, colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily. The range of symptoms—on the skeleton as well as on the body's other organs—may be mild to severe. Symptoms found in various types of OI include whites of the eye (sclerae) that are blue instead, short stature, loose joints, hearing loss, breathing problems and problems with the teeth. Potentially life-threatening complications, all of which become more common in more severe OI, include: tearing (dissection) of the major arteries, such as the aorta; pulmonary valve insufficiency secondary to distortion of the ribcage; and basilar invagination.
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males and in females who are homozygous for the gene mutation, see zygosity. Females with one copy of the mutated gene are carriers.
Chondrodystrophy refers to a skeletal disorder caused by one of myriad genetic mutations that can affect the development of cartilage. As a very general term, it is only used in the medical literature when a more precise description of the condition is unavailable.
Blue diaper syndrome is a rare, autosomal recessive or X linked recessive metabolic disorder characterized in infants by bluish urine-stained diapers. It is also known as Drummond's syndrome, and hypercalcemia.
Sclerostin is a protein that in humans is encoded by the SOST gene. It is a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN family of bone morphogenetic protein (BMP) antagonists. Sclerostin is produced primarily by the osteocyte but is also expressed in other tissues, and has anti-anabolic effects on bone formation.
Infantile cortical hyperostosis (ICH) is a self-limited inflammatory disorder of infants that causes bone changes, soft tissue swelling and irritability. The disease may be present at birth or occur shortly thereafter. The cause is unknown. Both familial and sporadic forms occur. It is also known as Caffey disease or Caffey's disease.
Camurati–Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. It is also known as progressive diaphyseal dysplasia. It is a form of dysplasia. Patients typically have heavily thickened bones, especially along the shafts of the long bones. The skull bones may be thickened so that the passages through the skull that carry nerves and blood vessels become narrowed, possibly leading to sensory deficits, blindness, or deafness.
A hereditary carrier, is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease. Carriers are, however, able to pass the allele onto their offspring, who may then express the genetic trait.
Hereditary motor and sensory neuropathies (HMSN) is a name sometimes given to a group of different neuropathies which are all characterized by their impact upon both afferent and efferent neural communication. HMSN are characterised by atypical neural development and degradation of neural tissue. The two common forms of HMSN are either hypertrophic demyelinated nerves or complete atrophy of neural tissue. Hypertrophic condition causes neural stiffness and a demyelination of nerves in the peripheral nervous system, and atrophy causes the breakdown of axons and neural cell bodies. In these disorders, a patient experiences progressive muscle atrophy and sensory neuropathy of the extremities.
Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus platinus, autosomal dominant osteosclerosis, autosomal dominant endosteal hyperostosis or Worth disease, is a rare autosomal dominant congenital disorder that is caused by a mutation in the LRP5 gene. It is characterized by increased bone density and benign bony structures on the palate.
Cranio-lenticulo-sutural dysplasia is a neonatal/infancy disease caused by a disorder in the 14th chromosome. It is an autosomal recessive disorder, meaning that both recessive genes must be inherited from each parent in order for the disease to manifest itself. The disease causes a significant dilation of the endoplasmic reticulum in fibroblasts of the host with CLSD. Due to the distension of the endoplasmic reticulum, export of proteins from the cell is disrupted.
A hereditary cancer syndrome is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the development of cancer and may also cause early onset of these cancers. Hereditary cancer syndromes often show not only a high lifetime risk of developing cancer, but also the development of multiple independent primary tumors.
Sclerosteosis is an autosomal recessive disorder characterized by bone overgrowth. It was first described in 1958 but given the current name in 1967. Excessive bone formation is most prominent in the skull, mandible and tubular bones. It can cause facial distortion and syndactyly. Increased intracranial pressure can cause sudden death in patients. It is a rare disorder that is most prominent in the Afrikaner population in South Africa, but there have also been cases of American and Brazilian families.
Dysosteosclerosis (DSS), also known as autosomal recessive dysosteosclerosis or X-linked recessive dysosteosclerosis, is a rare osteoclast-poor form of osteosclerosis that is presented during infancy and early childhood, characterized by progressive osteosclerosis and platyspondyly. Platyspondyly and other skeletal abnormalities are radiographic features of the disease which distinguish DSS from other osteosclerotic disorders. Patients usually experience neurological and psychological deterioration, therefore patients are commonly associated with delayed milestones.
Franciscus Stephanus Petrus (Frans) van Buchem was a Dutch physician and professor, known for the discovery of Van Buchem disease, which was named after him. He married Elisabeth Euphemia Maria Christiana Nuijens in January, 1930, aged 32. His PhD thesis was supervised by Nobel prize winner Professor Willem Einthoven. Frans was, among other things, the Chief Physician in Internal Medicine of the St Elisabeth Hospital and after the end of World War Two, became a professor of Internal Medicine at the University of Groningen. In 1954, van Buchem diagnosed a patient with what he referred to as hyperosteosis corticales generalisata familiaris, later named Van Buchem disease. A year later, he published an article in Acta Radiologica on the disease.
References
- 1 2 Van Hul, Wim; Balemans, Wendy; Van Hul, Els; Dikkers, Frederik G.; Obee, Henk; Stokroos, Robert J.; Hildering, Peter; Vanhoenacker, Filip; Van Camp, Guy; Willems, Patrick J. (1998). "Van Buchem Disease (Hyperostosis Corticalis Generalisata) Maps to Chromosome 17q12-q21" (PDF). The American Journal of Human Genetics. 62 (2): 391–399. doi:10.1086/301721. ISSN 0002-9297. PMC 1376897 . PMID 9463328.
- ↑ Datema, M; Appelman-Dijkstra, NM; Hoyng, SA; Verstegen, MJ; Koot, RW (July 2015). "Decompressive surgery in a patient with hyperostosis corticalis generalisata for relief of cognitive disability and dysaesthesia". Acta Neurochirurgica. 157 (7): 1215–8, discussion 1219. doi:10.1007/s00701-015-2445-1. PMID 25976340. S2CID 6436587.
- ↑ Veerman, Elmar; Hamersma, Herman (17 November 2000). "Net closes around bone disease of Urk". Cicero (18): 2. ISSN 0920-2900.
- ↑ Ley, Willy (October 1961). The Home-Made Land. Galaxy Science Fiction. pp. 92–106.
- ↑ Nyst, Victoria A. S. (January 2016). "Hereditary Deafness in a Former Fishing Village on the Dutch Coast". Journal of Deaf Studies and Deaf Education. 21 (1): 94–103. doi: 10.1093/deafed/env045 . PMID 26405211.