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Greig Cephalopolysyndactyly Syndrome
Greig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big toe (hallux). Presentation The skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures and developmental delay. Pathophysiology Greig cephalopolysyndactyly syndrome is a chromosomal condition related to chromosome 7. Mutations in the ''GLI3'' gene cause Greig cephalopolysyndactyly syndrome. The ''GLI3'' gene provides instructions for making a protein that controls gene expression, which is a process that regul ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polydactyly
Polydactyly or polydactylism (), also known as hyperdactyly, is an anomaly in humans and animals resulting in supernumerary fingers and/or toes. Polydactyly is the opposite of oligodactyly (fewer fingers or toes). Signs and symptoms In humans/animals this condition can present itself on one or both hands or feet. The extra digit is usually a small piece of soft tissue that can be removed. Occasionally it contains bone without joints; rarely it may be a complete functioning digit. The extra digit is most common on the ulnar (little finger) side of the hand, less common on the radial ( thumb) side, and very rarely within the middle three digits. These are respectively known as postaxial (little finger), preaxial (thumb), and central (ring, middle, index fingers) polydactyly. The extra digit is most commonly an abnormal fork in an existing digit, or it may rarely originate at the wrist as a normal digit does. The incidence of congenital deformities in newborns is approximately 2 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Carpenter Syndrome
Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly. Acrocephalopolysyndactyly is a variation of acrocephalosyndactyly that presents with polydactyly. It was first characterized in 1909, and is named for George Alfred Carpenter. Presentation Carpenter syndrome presents several features: * Turricephaly – tower-shaped skull * Polydactyly – additional digits (fingers and toes) * Syndactyly – fused digits * Obesity * Reduced height * Undescended testes Intellectual disability is also common with the disorder, although some patients may have average intellectual capacity. Description Carpenter syndrome belongs to a rare genetic disorder known as acrocephalosyndactyly, (ACPS) (RN, 2007). There were originally five types of ACPS, but this number has been decreased because they have been found to be closely related to one ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes With Dysmelia
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant Disorders
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Transcription Factor Deficiencies
Transcription refers to the process of converting sounds (voice, music etc.) into letters or musical notes, or producing a copy of something in another medium, including: Genetics * Transcription (biology), the copying of DNA into RNA, the first step in gene expression ** Bacterial transcription, the generation of RNA transcripts of the genetic material in prokaryotes ** Eukaryotic transcription, the process of copying the genetic information stored in DNA into RNA in eukaryotes ** ''Transcription'' (journal), an academic journal about genetics ** Transcription factor, a protein that controls the rate of transcription of genetic information from DNA to messenger RNA Music * Transcription (music), notating, converting musical sound into visual musical notes (for any purpose) ** Piano transcription, a common type of music transcription * Transcription disc, a sound recording made during broadcasting for internal use by the broadcasting organization Speech transcription The pro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorders Of Musculoskeletal System
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be visib ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
FRSE
Fellowship of the Royal Society of Edinburgh (FRSE) is an award granted to individuals that the Royal Society of Edinburgh, Scotland's national academy of science and letters, judged to be "eminently distinguished in their subject". This society received a royal charter in 1783, allowing for its expansion. Elections Around 50 new fellows are elected each year in March. there are around 1,650 Fellows, including 71 Honorary Fellows and 76 Corresponding Fellows. Fellows are entitled to use the post-nominal letters FRSE, Honorary Fellows HonFRSE, and Corresponding Fellows CorrFRSE. Disciplines The Fellowship is split into four broad sectors, covering the full range of physical and life sciences, arts, humanities, social sciences, education, professions, industry, business and public life. A: Life Sciences * A1: Biomedical and Cognitive Sciences * A2: Clinical Sciences * A3: Organismal and Environmental Biology * A4: Cell and Molecular Biology B: Physical, Engineering and I ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
David Middleton Greig
David Middleton Greig FRSE FRCSE LLD TD (1864-4 May 1936) was a Scottish surgeon who worked for most of his career at Dundee Royal Infirmary. He developed an interest in diseases of bone and came to be regarded as an international authority on the subject. He wrote numerous papers on skeletal abnormalities and Greig cephalopolysyndactyly syndrome (first described in 1926) is named after him. Over the course of his career he amassed a large collection of skulls demonstrating various bony abnormalities. After retiring from surgical practice he became conservator of the Museum of the Royal College of Surgeons of Edinburgh at Surgeons' Hall. He donated 250 skulls to Surgeons' Hall Museum, where some remain on display as part of the Greig Collection. Life Greig was born at 140 Nethergate in Dundee in 1864 , son of Dr David Greig a Dundee general practitioner and descendant of a long line of medical practitioners. He first studied medicine at the University of St Andrews but then mo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gorlin Syndrome
Gorlin may refer to: People *Dan Gorlin, computer game programmer, designer and founder of Dan Gorlin Productions *Eitan Gorlin, filmmaker, author and actor *Mikhail Gorlin, Russian emigre poet *Richard Gorlin, American cardiologist, co-developed the Gorlin equation * Robert J. Gorlin, a professor and researcher at the University of Minnesota In medicine *Gorlin sign, the ability to touch the tip of the nose with the tongue and touch the elbow with the tongue *Gorlin syndrome Gorlin may refer to: People * Dan Gorlin, computer game programmer, designer and founder of Dan Gorlin Productions * Eitan Gorlin, filmmaker, author and actor * Mikhail Gorlin, Russian emigre poet * Richard Gorlin, American cardiologist, co-devel ..., also known as basal cell nevus syndrome *The Gorlin equation, a method to calculate the effective area of a heart valve during cardiac catheterization {{disambig ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acrocallosal Syndrome
Acrocallosal syndrome (also known as ACLS) is an extremely rare autosomal recessive syndrome characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and intellectual disabilities, and other symptoms. The syndrome was first described by Albert Schinzel in 1979. Mutations in ''KIF7'' are causative for ACLS, and mutations in ''GLI3'' are associated with a similar syndrome. Signs and symptoms Acrocallosal syndrome (ACLS, ACS, Schinzel-type, Hallux-duplication) is a rare, heterogeneous autosomal recessive disorder first discovered by Albert Schinzel (1979) in a 3-year-old boy. Characteristics of this syndrome include agenesis of the corpus callosum, macrocephaly, hypertelorism, poor motor skills, intellectual disability, extra fingers and toes (particularly hallux duplication), and cleft palate. Seizures may also occur. Mechanism Mutations in the ''KIF7'' gene are causative for ACLS. KIF7 is a 1343 amino acid protein with a kinesin motor, c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hallux
Toes are the digits (fingers) of the foot of a tetrapod. Animal species such as cats that walk on their toes are described as being '' digitigrade''. Humans, and other animals that walk on the soles of their feet, are described as being '' plantigrade''; ''unguligrade'' animals are those that walk on hooves at the tips of their toes. Structure There are normally five toes present on each human foot. Each toe consists of three phalanx bones, the proximal, middle, and distal, with the exception of the big toe ( la, hallux). For a minority of people, the little toe also is missing a middle bone. The hallux only contains two phalanx bones, the proximal and distal. The joints between each phalanx are the interphalangeal joints. The proximal phalanx bone of each toe articulates with the metatarsal bone of the foot at the metatarsophalangeal joint. Each toe is surrounded by skin, and present on all five toes is a toenail. The toes are, from medial to lateral: * the first ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Greig Syndrome 3
Greig may refer to: People * Greig (name) Places United States * Greig, New York, a town in Lewis County, New York * Cape Greig in Alaska Canada * Greig Lake (Saskatchewan), a lake in Saskatchewan * Greig Lake (Vancouver Island), a lake in British Columbia Other uses * David Greig (supermarket), a former UK supermarket chain, now part of the Co-operative Group * Greig cephalopolysyndactyly syndrome * Greig City Academy Greig City Academy is a mixed-sex secondary school A secondary school describes an institution that provides secondary education and also usually includes the building where this takes place. Some secondary schools provide both '' lower s ... See also * Grieg (other) {{disambig ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
