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Cleft Hand
Ectrodactyly, split hand, or cleft hand () involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). The hands and feet of people with ectrodactyly (ectrodactyls) are often described as "claw-like" and may include only the thumb and one finger (usually either the little finger, ring finger, or a syndactyly of the two) with similar abnormalities of the feet. It is a substantial rare form of a congenital disorder in which the development of the hand is disturbed. It is a type I failure of formation – longitudinal arrest. The central ray of the hand is affected and usually appears without proximal deficiencies of nerves, vessels, tendons, muscles and bones in contrast to the radial and ulnar deficiencies. The cleft hand appears as a V-shaped cleft situated in the centre of the hand. The digits at the borders of the cleft might be syndactilyzed, and one or more digits can be absent. In most ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndactyly
Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, but is an unusual condition in humans. The term is . Classification Syndactyly can be simple or complex. * In simple syndactyly, adjacent fingers or toes are joined by soft tissue. * In complex syndactyly, the bones of adjacent digits are fused. The kangaroo exhibits complex syndactyly. Syndactyly can be complete or incomplete. * In complete syndactyly, the skin is joined all the way to the tip of the involved digits. * In incomplete syndactyly, the skin is only joined part of the distance to the tip of the involved digits. Complex syndactyly occurs as part of a syndrome (such as Apert syndrome) and typically involves more digits than simple syndactyly. Fenestrated syndactyly, also known as acrosyndactyly or terminal syndactyly, means the skin is joined for most of the digit but in a proximal area there are gaps in the syndactyly with normal skin. This type of synda ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, 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 Heredity, 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 Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gestation
Gestation is the period of development during the carrying of an embryo, and later fetus, inside viviparous animals (the embryo develops within the parent). It is typical for mammals, but also occurs for some non-mammals. Mammals during pregnancy can have one or more gestations at the same time, for example in a multiple birth. The time interval of a gestation is called the '' gestation period''. In obstetrics, '' gestational age'' refers to the time since the onset of the last menses, which on average is fertilization age plus two weeks. Mammals In mammals, pregnancy begins when a zygote (fertilized ovum) implants in the female's uterus and ends once the fetus leaves the uterus during labor or an abortion (whether induced or spontaneous). Humans In humans, pregnancy can be defined clinically, biochemically or biologically. Clinically, pregnancy starts from first day of the mother's last period. Biochemically, pregnancy starts when a woman's human chorionic gonado ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myleran
Busulfan (Myleran, GlaxoSmithKline, Busulfex IV, Otsuka America Pharmaceutical, Inc.) is a chemotherapy drug in use since 1959. It is a cell cycle non-specific alkylating antineoplastic agent, in the class of alkyl sulfonates. Its chemical designation is 1,4-butanediol dimethanesulfonate. History Busulfan was approved by the US Food and Drug Administration (FDA) for treatment of chronic myeloid leukemia (CML) in 1999. Busulfan was the mainstay of the chemotherapeutic treatment of chronic myeloid leukemia (CML) until it was displaced by the new gold standard, imatinib, though it is still in use to a degree as a result of the drug's relative low cost. Indications Busulfan is used in pediatrics and adults in combination with cyclophosphamide or fludarabine/clofarabine as a conditioning agent prior to bone marrow transplantation, especially in chronic myelogenous leukemia (CML) and other leukemias, lymphomas, and myeloproliferative disorders. Busulfan can control tumor burde ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
De Novo Mutation
A de novo mutation (DNM) is any mutation or alteration in the genome of an individual organism (human, animal, plant, microbe, etc.) that was not inherited from its parents. This type of mutation spontaneously occurs during the process of DNA replication during cell division. De novo mutations, by definition, are present in the affected individual but absent from both biological parents' genomes. A de novo mutation can arise in a sperm or egg cell and become a germline mutation, or after fertilization as a post-zygotic mutation that cannot be inherited by offspring. These mutations can occur in any cell of the offspring, but those in the germ line (eggs or sperm) can be passed on to the next generation. In most cases, such a mutation has little or no effect on the affected organism due to the redundancy and robustness of the genetic code. However, in rare cases, it can have notable and serious effects on overall health, physical appearance, and other traits. Disorders that most co ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Variable Penetrance
Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (genotype) that also expresses an associated trait (phenotype). In medical genetics, the penetrance of a disease-causing mutation is the proportion of individuals with the mutation that exhibit clinical symptoms among all individuals with such mutation. For example: If a mutation in the gene responsible for a particular autosomal dominant disorder has 95% penetrance, then 95% of those with the mutation will go on to develop the disease, showing its phenotype, whereas 5% will not. Penetrance only refers to whether an individual with a specific genotype exhibits any phenotypic signs or symptoms, and is not to be confused with variable expressivity which is to what extent or degree the symptoms for said disease are shown (the expression of the phenotypic trait). Meaning that, even if the same disease-causing mutation affects separate individuals, the expressivity will vary. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polydactyly
Polydactyly is a birth defect that results in extra fingers or toes. The hands are more commonly involved than the feet. Extra fingers may be painful, affect self-esteem, or result in clumsiness. It is associated with at least 39 genetic mutations. It may either present alone or with other defects. Cases may run in families. The underlying mechanism involves an error in limb bud formation during early development. Diagnosis may occur before birth via prenatal ultrasound as early as nine weeks. X-rays may be useful after a child is a year old. The opposite is oligodactyly (fewer fingers or toes). Treatment varies from removal by cautery to more involved surgery. While putting a tight band around the base has been carried out, this is not typically recommended. If surgery is required, this is often done around two years of age. Occasionally multiple surgeries are required. Polydactyly is present in about 4 to 12 per 10,000 newborns. It is the most common defect of the ha ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Teratology
Teratology is the study of abnormalities of physiological development in organisms during their life span. It is a sub-discipline in medical genetics which focuses on the classification of congenital abnormalities in dysmorphology caused by teratogens and also in pharmacology and toxicology. Teratogens are substances that may cause non-heritable birth defects via a toxic effect on an embryo or fetus. Defects include malformations, disruptions, deformations, and dysplasia that may cause stunted growth, delayed mental development, or other congenital disorders that lack structural malformations. These defects can be recognized prior to or at birth as well as later during early childhood. The related term developmental toxicity includes all manifestations of abnormal development that are caused by environmental insult. The extent to which teratogens will impact an embryo is dependent on several factors, such as how long the embryo has been exposed, the stage of development the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ectrodactyly-polydactyly Syndrome
Ectrodactyly-polydactyly syndrome is a very rare congenital limb malformation syndrome of genetic origin which is characterized a combination of ectrodactyly and polydactyly consisting of underdeveloped/absent central rays of the hands or feet alongside postaxial polydactyly in the same limb that can range from a hypoplastic, bone-devoid extra digit to a fully developed supernumerary digit. It has been described in 4 children from a single sibship in Belgium Belgium, officially the Kingdom of Belgium, is a country in Northwestern Europe. Situated in a coastal lowland region known as the Low Countries, it is bordered by the Netherlands to the north, Germany to the east, Luxembourg to the southeas .... References Rare genetic syndromes Congenital disorders of musculoskeletal system Supernumerary body parts {{Genetic-disorder-stub} ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ADULT Syndrome
An adult is an animal that has reached full growth. The biological definition of the word means an animal reaching sexual maturity and thus capable of reproduction. In the human context, the term ''adult'' has meanings associated with social and legal concepts. In contrast to a non-adult or "minor", a legal adult is a person who has attained the age of majority and is therefore regarded as independent, self-sufficient, and responsible. They may also be regarded as "majors". The typical age of attaining legal adulthood is 18 although definition may vary by legal rights, country, and psychological development. Human adulthood encompasses psychological adult development. Definitions of adulthood are often inconsistent and contradictory; a person may be biologically an adult, and have adult behavior, but still be treated as a child if they are under the legal age of majority. Conversely, one may legally be an adult but possess none of the maturity and responsibility that may defi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DLX5
Homeobox protein DLX-5 is a protein that in humans is encoded by the distal-less homeobox 5 gene, or ''DLX5'' gene. DLX5 is a member of the DLX gene family. Function This gene encodes a member of a homeobox transcription factor gene family similar to the ''Drosophila'' distal-less (Dll) gene. The encoded protein may play a role in bone development and fracture healing. Current research holds that the homeobox gene family is important in appendage development. DLX5 and DLX6 can be seen to work in conjunction and are both necessary for proper craniofacial, axial, and appendicular skeleton development. Mutations in this gene, which is located in a tail-to-tail configuration with ''DLX6'' on the long arm of chromosome 7, may be associated with split-hand/split-foot malformation. DLX5 also acts as the early BMP-responsive transcriptional activator needed for osteoblast differentiation by stimulating the up-regulation of a variety of promoters ( ALPL promoter, SP7 promoter, MYC p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
