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RAPADILINO Syndrome
RAPADILINO syndrome is an autosomal recessive disorder characterized by: * RA: radial ray defect * PA: patellar aplasia, arched or cleft palate * DI: diarrhea, dislocated joints * LI: little (short stature), limb malformation * NO: slender nose, normal intelligence It is more prevalent in Finland than elsewhere in the world. It has been associated with the gene RECQL4. This is also associated with Rothmund–Thomson syndrome Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive skin condition. There have been several reported cases associated with osteosarcoma. A hereditary basis, mutations in the DNA helicase ''RECQL4'' gene, causing problems during initi ... and Baller–Gerold syndrome. References External links GeneReviews/NCBI/NIH/UW entry on Baller-Gerold Syndrome Congenital disorders of musculoskeletal system Autosomal recessive disorders Rare syndromes Syndromes affecting bones DNA replication and repair-deficiency disorders Syndromes affec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inheritance
Inheritance is the practice of receiving private property, Title (property), titles, debts, entitlements, Privilege (law), privileges, rights, and Law of obligations, obligations upon the death of an individual. The rules of inheritance differ among societies and have changed over time. Officially bequest, bequeathing private property and/or debts can be performed by a testator via will (law), 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 decedent, 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 ( ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive Disorder
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromosome e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Radius (bone)
The radius or radial bone is one of the two large bones of the forearm, the other being the ulna. It extends from the lateral side of the elbow to the thumb side of the wrist and runs parallel to the ulna. The ulna is usually slightly longer than the radius, but the radius is thicker. Therefore the radius is considered to be the larger of the two. It is a long bone, prism-shaped and slightly curved longitudinally. The radius is part of two joints: the elbow and the wrist. At the elbow, it joins with the capitulum of the humerus, and in a separate region, with the ulna at the radial notch. At the wrist, the radius forms a joint with the ulna bone. The corresponding bone in the lower leg is the fibula. Structure The long narrow medullary cavity is enclosed in a strong wall of compact bone. It is thickest along the interosseous border and thinnest at the extremities, same over the cup-shaped articular surface (fovea) of the head. The trabeculae of the spongy tissue are some ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Patella
The patella, also known as the kneecap, is a flat, rounded triangular bone which articulates with the femur (thigh bone) and covers and protects the anterior articular surface of the knee joint. The patella is found in many tetrapods, such as mice, cats, birds and dogs, but not in whales, or most reptiles. In humans, the patella is the largest sesamoid bone (i.e., embedded within a tendon or a muscle) in the body. Babies are born with a patella of soft cartilage which begins to ossify into bone at about four years of age. Structure The patella is a sesamoid bone roughly triangular in shape, with the apex of the patella facing downwards. The apex is the most inferior (lowest) part of the patella. It is pointed in shape, and gives attachment to the patellar ligament. The front and back surfaces are joined by a thin margin and towards centre by a thicker margin. The tendon of the quadriceps femoris muscle attaches to the base of the patella., with the vastus intermedius muscle ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aplasia
Aplasia (; from Greek ''a'', "not", "no" + ''plasis'', "formation") is a birth defect where an organ or tissue is wholly or largely absent. It is caused by a defect in a developmental process. Aplastic anemia is the failure of the body to produce blood cells. It may occur at any time, and has multiple causes. __TOC__ Examples * Acquired pure red cell aplasia * Aplasia cutis congenita * Aplastic anemia * Germ cell aplasia, also known as Sertoli cell-only syndrome * Radial aplasia * Thymic aplasia, which is found in DiGeorge syndrome and also occurs naturally as part of the gradual loss of function of the immune system later in life See also * Atrophy * Hyperplasia * Hypoplasia * Neoplasia * List of biological development disorders References Bibliography * Reece JB, Urry LA, Cain ML, Wasserman SA, Minorsky PV, Jackson RB. Campbell Biology (10th ed.). Addison Wesley Longman; 2014. {{DEFAULTSORT:Biological development disorders Lists of diseases Disability-related ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cleft Palate
A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The term orofacial cleft refers to either condition or to both occurring together. These disorders can result in feeding problems, speech problems, hearing problems, and frequent ear infections. Less than half the time the condition is associated with other disorders. Cleft lip and palate are the result of tissues of the face not joining properly during development. As such, they are a type of birth defect. The cause is unknown in most cases. Risk factors include smoking during pregnancy, diabetes, obesity, an older mother, and certain medications (such as some used to treat seizures). Cleft lip and cleft palate can often be diagnosed during pregnancy with an ultrasound exam. A cleft lip or palate can be successfully treated with surgery. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Diarrhea
Diarrhea, also spelled diarrhoea, is the condition of having at least three loose, liquid, or watery bowel movements each day. It often lasts for a few days and can result in dehydration due to fluid loss. Signs of dehydration often begin with loss of the normal stretchiness of the skin and irritable behaviour. This can progress to decreased urination, loss of skin color, a fast heart rate, and a decrease in responsiveness as it becomes more severe. Loose but non-watery stools in babies who are exclusively breastfed, however, are normal. The most common cause is an infection of the intestines due to either a virus, bacterium, or parasite—a condition also known as gastroenteritis. These infections are often acquired from food or water that has been contaminated by feces, or directly from another person who is infected. The three types of diarrhea are: short duration watery diarrhea, short duration bloody diarrhea, and persistent diarrhea (lasting more than two weeks, w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Finland
Finland ( fi, Suomi ; sv, Finland ), officially the Republic of Finland (; ), is a Nordic country in Northern Europe. It shares land borders with Sweden to the northwest, Norway to the north, and Russia to the east, with the Gulf of Bothnia to the west and the Gulf of Finland across Estonia to the south. Finland covers an area of with a population of 5.6 million. Helsinki is the capital and largest city, forming a larger metropolitan area with the neighbouring cities of Espoo, Kauniainen, and Vantaa. The vast majority of the population are ethnic Finns. Finnish, alongside Swedish, are the official languages. Swedish is the native language of 5.2% of the population. Finland's climate varies from humid continental in the south to the boreal in the north. The land cover is primarily a boreal forest biome, with more than 180,000 recorded lakes. Finland was first inhabited around 9000 BC after the Last Glacial Period. The Stone Age introduced several differ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RECQL4
ATP-dependent DNA helicase Q4 is an enzyme that in humans is encoded by the ''RECQL4'' gene. Mutations in ''RECQL4'' are associated with the autosomal recessive disease Rothmund–Thomson syndrome, a disorder that has features of premature aging. In addition to the Rothmund–Thomson syndrome, ''RECQL4'' mutations are also associated with RAPADILINO and Baller–Gerold syndromes. There are two types of Rothmund Thomson syndrome and it is Type 2 that occurs in patients carrying deleterious mutations in both copies of the ''RECQL4'' gene. This condition is associated with a high risk of developing osteosarcoma (malignant tumor of the bone). ''RECQL4'' gets its name from being homologous (sharing sequence) with other members of the RecQ helicase family. Two other genetic diseases are due to mutations in other RECQ helicases. Bloom syndrome is associated with mutations in the ''BLM'' gene and Werner syndrome is associated with mutations in the ''WRN'' gene. DNA repair Double-st ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rothmund–Thomson Syndrome
Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive skin condition. There have been several reported cases associated with osteosarcoma. A hereditary basis, mutations in the DNA helicase ''RECQL4'' gene, causing problems during initiation of DNA replication has been implicated in the syndrome. Signs and symptoms * Sun-sensitive rash with prominent poikiloderma and telangiectasias * Juvenile cataracts * Saddle nose * Congenital bone defects, including short stature and radial ray anomalies such as absent thumbs * Hair growth problems (absent eyelashes, eyebrows and/or hair) * Hypogonadism has not been well documented * Hypodontia * Calcium problems (not documented in journals) * Ear problems (not documented in journals but identified by patients in support groups) * Produces osteosarcoma The skin is normal at birth. Between 3 and 6 months of age, the affected carrier develops poikiloderma on the cheeks. This characteristic "rash" that all RTS carriers have can develop ... [...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] |
Autosomal Recessive Disorders
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromosome e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
