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Barber–Say Syndrome
Barber-Say syndrome (BSS) is a very rare congenital disorder associated with excessive hair growth ( hypertrichosis), fragile ( atrophic) skin, eyelid deformities ( ectropion), and an overly broad mouth (macrostomia). Barber-Say syndrome is phenotypically similar to Ablepharon macrostomia syndrome, which is also associated with dominant mutations in ''TWIST2''. Signs and symptoms * Severe hypertrichosis, especially of the back * Skin abnormalities, including hyperlaxity and redundancy * Facial dysmorphism, including macrostomia * Eyelid deformities, in * Abnormal and low-set ears * Bulbous nasal tip with hypoplastic alae nasi * Low frontal hairline Genetics Multiple cases of parent-to-child transmission suggest that Barber-Say syndrome exhibits autosomal dominant inheritance. Exome sequencing and expression studies have shown that BSS is caused by mutations in the '' TWIST2'' gene that affect a highly conserved residue of TWIST2 (twist-related protein 2). TWIST2 is a basic hel ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inheritance
Inheritance is the practice of receiving private property, titles, debts, entitlements, privileges, rights, and obligations upon the death of an individual. The rules of inheritance differ among societies and have changed over time. Officially bequeathing private property and/or debts can be performed by a testator via will, as attested by a notary or by other lawful means. Terminology In law, an ''heir'' is a person who is entitled to receive a share of the deceased's (the person who died) property, subject to the rules of inheritance in the jurisdiction of which the deceased was a citizen or where the deceased (decedent) died or owned property at the time of death. The inheritance may be either under the terms of a will or by intestate laws if the deceased had no will. However, the will must comply with the laws of the jurisdiction at the time it was created or it will be declared invalid (for example, some states do not recognise handwritten wills as valid, or on ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorder
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 b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypertrichosis
Hypertrichosis is an abnormal amount of hair growth over the body. The two distinct types of hypertrichosis are generalized hypertrichosis, which occurs over the entire body, and localized hypertrichosis, which is restricted to a certain area. Hypertrichosis can be either congenital (present at birth) or acquired later in life. The excess growth of hair occurs in areas of the skin with the exception of androgen-dependent hair of the pubic area, face, and axillary regions. Several circus sideshow performers in the 19th and early 20th centuries, such as Julia Pastrana, had hypertrichosis. Many of them worked as freaks and were promoted as having distinct human and animal traits. Classification Two methods of classification are used for hypertrichosis. One divides them into either generalized versus localized hypertrichosis, while the other divides them into congenital versus acquired. Congenital Congenital forms of hypertrichosis are caused by genetic mutations, and are ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Atrophy
Atrophy is the partial or complete wasting away of a part of the body. Causes of atrophy include mutations (which can destroy the gene to build up the organ), poor nourishment, poor circulation, loss of hormonal support, loss of nerve supply to the target organ, excessive amount of apoptosis of cells, and disuse or lack of exercise or disease intrinsic to the tissue itself. In medical practice, hormonal and nerve inputs that maintain an organ or body part are said to have ''trophic'' effects. A diminished muscular trophic condition is designated as ''atrophy''. Atrophy is reduction in size of cell, organ or tissue, after attaining its normal mature growth. In contrast, hypoplasia is the reduction in the cellular numbers of an organ, or tissue that has not attained normal maturity. Atrophy is the general physiological process of reabsorption and breakdown of tissues, involving apoptosis. When it occurs as a result of disease or loss of trophic support because of other diseas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ectropion
Ectropion is a medical condition in which the lower eyelid turns outwards. It is one of the notable aspects of newborns exhibiting congenital Harlequin-type ichthyosis, but ectropion can occur due to any weakening of tissue of the lower eyelid. The condition can be repaired surgically. Ectropion is also found in dogs as a genetic disorder in certain breeds. Causes *Congenital *Aging *Scarring *Mechanical *Allergic *Facial nerve palsy *Anti-cancer treatments such as erlotinib, cetuximab, and panitumumab, which block the function of EGFR (the epidermal growth factor receptor). Diagnosis Ectropion can usually be diagnosed with a routine eye exam and physical. The eyelid's muscle tone and tightness can be assessed by pulling gently on the eyelid. Ectropion in dogs Ectropion in dogs usually involves the lower eyelid. Often the condition has no symptoms, but tearing and conjunctivitis may be seen. Breeds associated with ectropion include the Cocker Spaniel, the Saint Bernard, th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Macrostomia
Macrostomia refers to a mouth that is unusually wide. The term is from the Greek prefix ''makro-'' meaning "large" and from Greek στόμα, "mouth". Henry George Liddell, Robert Scott, ''A Greek-English Lexicon'', on Perseus Macrostomia is characterized as a physical abnormality that causes clefts to form on the face of affected individuals. These clefts can form on either or both sides of the face, but they are most commonly seen on the right cheek and have a higher rate of occurrence in males. Macrostomia is very irregular and on average occurs only once in every 150,000 to 300,000 live births. It's unusual for macrostomia to occur on its own and it is included as a symptom for many diseases including [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ablepharon Macrostomia Syndrome
Ablepharon macrostomia syndrome (AMS) is an extremely rare, autosomal dominant genetic disorder characterized by abnormal phenotypic appearances that primarily affect the head and face as well as the skull, skin, fingers and genitals. AMS generally results in abnormal ectoderm-derived structures. The most prominent abnormality is the underdevelopment (microblepharon) or absence of eyelids – signifying the ablepharon aspect of the disease – and a wide, fish-like mouth – macrostomia. Infants presenting with AMS may also have malformations of the abdominal wall and nipples. Children with AMS might also experience issues with learning development, language difficulties and intellectual disabilities. AMS is caused by mutations in the '' TWIST2'' gene, among others. It is closely related to Barber–Say syndrome in terms of phenotypic abnormalities. Signs and symptoms AMS is generally characterized by abnormal appearances of the skin, eyes, fingers, genitals, head and face. In ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypermobility (joints)
Hypermobility, also known as double-jointedness, describes joints that stretch farther than normal. For example, some hypermobile people can bend their thumbs backwards to their wrists, bend their knee joints backwards, put their leg behind the head or perform other contortionist "tricks". It can affect one or more joints throughout the body. Hypermobile joints are common and occur in about 10 to 25% of the population, but in a minority of people, pain and other symptoms are present. This may be a sign of what is known as joint hypermobility syndrome (JMS) or, more recently, hypermobility spectrum disorder (HSD). Hypermobile joints are a feature of genetic connective tissue disorders such as hypermobility spectrum disorder (HSD) or Ehlers–Danlos syndromes (EDS). Until new diagnostic criteria were introduced, hypermobility syndrome was sometimes considered identical to hypermobile Ehlers–Danlos syndrome (hEDS), formerly called EDS Type 3. As no genetic test can distinguish ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
TWIST2
Twist-related protein 2 is a protein that in humans is encoded by the ''TWIST2'' gene. The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor and shares similarity with another bHLH transcription factor, TWIST1. bHLH transcription factors have been implicated in cell lineage determination and differentiation. It is thought that during osteoblast development, this protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype. Interactions TWIST2 has been shown to interact with SREBF1. Clinical significance Mutations in the ''TWIST2'' gene that alter DNA-binding activity through both dominant-negative and gain-of-function effects are associated with ablepharon macrostomia syndrome and Barber–Say syndrome Barber-Say syndrome (BSS) is a very rare congenital disorder associated with excessive hair growth ( hypertrichosis), fragile ( atrophic) skin, eyelid deformities ( ectropion), and an overly broad mouth (macrostomi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Basic Helix-loop-helix
BASIC (Beginners' All-purpose Symbolic Instruction Code) is a family of general-purpose, high-level programming languages designed for ease of use. The original version was created by John G. Kemeny and Thomas E. Kurtz at Dartmouth College in 1963. They wanted to enable students in non-scientific fields to use computers. At the time, nearly all computers required writing custom software, which only scientists and mathematicians tended to learn. In addition to the program language, Kemeny and Kurtz developed the Dartmouth Time Sharing System (DTSS), which allowed multiple users to edit and run BASIC programs simultaneously on remote terminals. This general model became very popular on minicomputer systems like the PDP-11 and Data General Nova in the late 1960s and early 1970s. Hewlett-Packard produced an entire computer line for this method of operation, introducing the HP2000 series in the late 1960s and continuing sales into the 1980s. Many early video games trace their ... [...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 incomple ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
