Wallis–Zieff–Goldblatt Syndrome

	Wallis–Zieff–Goldblatt Syndrome Wallis–Zieff–Goldblatt syndrome is a rare condition characterized by inherited skeletal disorders manifested mainly as rhizomelic short stature and lateral clavicular defects. It is also known as Cleidorhizomelic syndrome. __TOC__ Presentation An initial clinical report of this syndrome describes a 6-month-old boy with rhizomelic shortening, particularly in the arms, and protuberances over the lateral aspects of the clavicles. On radiographs the lateral third of the clavicles had a bifid appearance resulting from an abnormal process or protuberance arising from the fusion center. His 22-year-old mother also had a height of 142 cm with an arm span of 136 cm and rhizomelic shortness of the limbs, maximal in the arms, and abnormalities of the acromioclavicular joints. Both the mother and the son had marked bilateral clinodactyly Clinodactyly is a medical term describing the curvature of a digit (a finger or toe) in the plane of the palm, most commonly the fifth fin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	Autosomal Dominant 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]
	Rhizomelia Rhizomelia refers to either a disproportion of the length of the proximal limb, such as the shortened limbs of achondroplasia, or some other disorder of the hip or shoulder. According to Stedman's medical dictionary "rhizomelic" means "relating to hip or shoulder joints", while "micromelic" means "having disproportionately short or small limbs". Genetic skeletal dysplasias or Osteochondrodysplasia frequently lead to short stature, occasionally termed dwarfism, which is classified into proportionate and disproportionate short stature. Disproportionate short stature is further classified short-limb short stature and short-trunk short stature. In turn, short-limb short stature is classified into a) Rhizomelic, b) mesomelic and c) acromelic short stature. Rhizomelic short stature refers to skeletal dysplasias where the main shortening is due to involvement of the proximal limb segments i.e. femora and humeri. Typical examples of Rhizomelic short stature are achondroplasia and pseudoacho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	Clavicle The clavicle, or collarbone, is a slender, S-shaped long bone approximately 6 inches (15 cm) long that serves as a strut between the shoulder blade and the sternum (breastbone). There are two clavicles, one on the left and one on the right. The clavicle is the only long bone in the body that lies horizontally. Together with the shoulder blade, it makes up the shoulder girdle. It is a palpable bone and, in people who have less fat in this region, the location of the bone is clearly visible. It receives its name from the Latin ''clavicula'' ("little key"), because the bone rotates along its axis like a key when the shoulder is abducted. The clavicle is the most commonly fractured bone. It can easily be fractured by impacts to the shoulder from the force of falling on outstretched arms or by a direct hit. Structure The collarbone is a thin doubly curved long bone that connects the arm to the trunk of the body. Located directly above the first rib, it acts as a strut to k ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Syndrome 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]
picture info	Clavicle The clavicle, or collarbone, is a slender, S-shaped long bone approximately 6 inches (15 cm) long that serves as a strut between the shoulder blade and the sternum (breastbone). There are two clavicles, one on the left and one on the right. The clavicle is the only long bone in the body that lies horizontally. Together with the shoulder blade, it makes up the shoulder girdle. It is a palpable bone and, in people who have less fat in this region, the location of the bone is clearly visible. It receives its name from the Latin ''clavicula'' ("little key"), because the bone rotates along its axis like a key when the shoulder is abducted. The clavicle is the most commonly fractured bone. It can easily be fractured by impacts to the shoulder from the force of falling on outstretched arms or by a direct hit. Structure The collarbone is a thin doubly curved long bone that connects the arm to the trunk of the body. Located directly above the first rib, it acts as a strut to k ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	Radiograph Radiography is an imaging technique using X-rays, gamma rays, or similar ionizing radiation and non-ionizing radiation to view the internal form of an object. Applications of radiography include medical radiography ("diagnostic" and "therapeutic") and industrial radiography. Similar techniques are used in airport security (where "body scanners" generally use backscatter X-ray). To create an image in conventional radiography, a beam of X-rays is produced by an X-ray generator and is projected toward the object. A certain amount of the X-rays or other radiation is absorbed by the object, dependent on the object's density and structural composition. The X-rays that pass through the object are captured behind the object by a detector (either photographic film or a digital detector). The generation of flat two dimensional images by this technique is called projectional radiography. In computed tomography (CT scanning) an X-ray source and its associated detectors rotate around the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Bifid Bifid refers to something that is split or cleft into two parts. It may refer to: * Bifid, a variation in the P wave, R wave, or T wave in an echocardiogram in which a wave which usually has a single peak instead has two separate peaks * Bifid cipher, a type of cipher in cryptography * Bifid penis * Bifid nose, a split nose that can even look like two noses; a fairly common trait in some dog varieties, especially the and its descendants * Bifid rib A bifid rib is a congenital abnormality of the rib cage and associated muscles and nerves which occurs in about 1.2% of humans. Bifid ribs occur in up to 8.4% of Samoans. The sternal end of the rib is cleaved into two. It is usually unilateral. ... , a congenital abnormality of the human anatomy {{disambiguation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Acromioclavicular Joint The acromioclavicular joint, or AC joint, is a joint at the top of the shoulder. It is the junction between the acromion (part of the scapula that forms the highest point of the shoulder) and the clavicle. It is a plane synovial joint. Structure Ligaments The joint is stabilized by three ligaments: * The acromioclavicular ligament, which attaches the clavicle to the acromion of the scapula. Superior Acromioclavicular Ligament This ligament is a quadrilateral band, covering the superior part of the articulation, and extending between the upper part of the lateral end of the clavicle and the adjoining part of the upper surface of the acromion. It is composed of parallel fibers, which interlace with the aponeuroses of the Trapezius and Deltoideus; below, it is in contact with the articular disk when this is present. Inferior Acromioclavicular Ligament This ligament is somewhat thinner than the preceding; it covers the under part of the articulation, and is attached to the adjoi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
	Clinodactyly Clinodactyly is a medical term describing the curvature of a digit (a finger or toe) in the plane of the palm, most commonly the fifth finger (the "little finger") towards the adjacent fourth finger (the "ring finger"). It is a fairly common isolated anomaly which often goes unnoticed, but also occurs in combination with other abnormalities in certain genetic syndromes. The term is from the Ancient Greek κλίνειν ' 'to bend' and δάκτυλος ' 'digit'. Genetics Clinodactyly is an autosomal dominant trait that has variable expressiveness and incomplete penetrance. Clinodactyly can be passed through inheritance and presents as either an isolated anomaly or a component manifestation of a genetic syndrome. Many syndromes are associated with clinodactyly, including those listed below. But the phenotype, by itself, is not a sensitive or specific diagnostic test for these syndromes (it is present in up to 18% of the normal population). * Down syndrome * Turner syndrome * Aa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]
picture info	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]
picture info	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]
	Genetic Disorders With OMIM But No Gene Genetic may refer to: Genetics, in biology, the science of genes, heredity, and the variation of organisms Genetic, used as an adjective, refers to genes Genetic disorder, any disorder caused by a genetic mutation, whether inherited or de novo Genetic mutation, a change in a gene *Heredity, genes and their mutations being passed from parents to offspring Genetic recombination, refers to the recombining of alleles resulting in a new molecule of DNA Genetic relationship (linguistics), in linguistics, a relationship between two languages with a common ancestor language Genetic algorithm In computer science and operations research, a genetic algorithm (GA) is a metaheuristic inspired by the process of natural selection that belongs to the larger class of evolutionary algorithms (EA). Genetic algorithms are commonly used to gene ..., in computer science, a kind of search technique modeled on evolutionary biology See also * Genetic memory (other) {{disam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu]