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Al-Raqad Syndrome
Al-Raqad syndrome is a congenital autosomal recessive syndrome discovered by Jordanian physician Mohammad Al-Raqad. It is characterized by: * Microcephaly * Growth delay * Psycho-motor development, Psycho-motor developmental delay * Congenital hypotonia. Al-Raqad syndrome is caused by mutation of DCPS (gene), DCPS gene. References External links NCBIMalaCards: The human disease databaseThe Universal Protein Resource (UniProt) Genetic syndromes Autosomal recessive disorders Syndromes with microcephaly {{genetic-disorder-stub ... [...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 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] |
Jordan
Jordan ( ar, الأردن; tr. ' ), officially the Hashemite Kingdom of Jordan,; tr. ' is a country in Western Asia. It is situated at the crossroads of Asia, Africa, and Europe, within the Levant region, on the East Bank of the Jordan River. Jordan is bordered by Saudi Arabia to the south and east, Iraq to the northeast, Syria to the north, and the Palestinian West Bank, Israel, and the Dead Sea to the west. It has a coastline in its southwest on the Gulf of Aqaba's Red Sea, which separates Jordan from Egypt. Amman is Jordan's capital and largest city, as well as its economic, political, and cultural centre. Modern-day Jordan has been inhabited by humans since the Paleolithic period. Three stable kingdoms emerged there at the end of the Bronze Age: Ammon, Moab and Edom. In the third century BC, the Arab Nabataeans established their Kingdom with Petra as the capital. Later rulers of the Transjordan region include the Assyrian, Babylonian, Roman, Byzantine, Rashidun ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mohammad Al-Raqad
Mohammed Kasseb Al-Raqad is a Jordanian physician, a Brigadier general in the Jordanian Royal medical services and a consultant in the field of clinical genetics. Qualifications * . Degree in medicine and surgery 9 June 1991: University of Jordan, School of Medicine, Amman, Jordan[...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microcephaly
Microcephaly (from New Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Since brain growth is correlated with head growth, people with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism. The disorder is caused by a disruption to the genetic processes that form the brain early in pregnancy, though the cause is not identified in most cases. Many genetic syndromes can result in microcephaly, including chromosomal and single-gene conditions, though almost always in combination with other symptoms. Mutations that result solely in microcephaly (primary microcephaly) exist but are less common. External toxins to the embryo, such as alcohol during pregnancy or vertically transmitted infec ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Growth Delay
Child development involves the biological, psychological and emotional changes that occur in human beings between birth and the conclusion of adolescence. Childhood is divided into 3 stages of life which include early childhood, middle childhood, and late childhood (preadolescence). Early childhood typically ranges from infancy to the age of 6 years old. During this period, development is significant, as many of life's milestones happen during this time period such as first words, learning to crawl, and learning to walk. There is speculation that middle childhood/preadolescence or ages 6–12 are the most crucial years of a child's life. Adolescence is the stage of life that typically starts around the major onset of puberty, with markers such as menarche and spermarche, typically occurring at 12–13 years of age. It has been defined as ages 10 to 19 by the World Health Organization. In the course of development, the individual human progresses from dependency to increasing auton ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Psycho-motor Development
Psychomotor learning is the relationship between cognitive functions and physical movement. Psychomotor learning is demonstrated by physical skills such as movement, coordination, manipulation, dexterity, grace, strength, speed—actions which demonstrate the fine or gross motor skills, such as use of precision instruments or tools, and walking. Sports and dance are the richest realms of gross psychomotor skills. Behavioral examples include driving a car, throwing a ball, and playing a musical instrument. In psychomotor learning research, attention is given to the learning of coordinated activity involving the arms, hands, fingers, and feet, while verbal processes are not emphasized. Stages of psychomotor development According to Paul Fitts and Michael Posner's three-stage model, when learning psychomotor skills, individuals progress through the cognitive stages, the associative stage, and the autonomic stage. The cognitive stage is marked by awkward slow and choppy movemen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Hypotonia
Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement, whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle weakness and the nat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DCPS (gene)
Scavenger mRNA-decapping enzyme DcpS is a protein that in humans is encoded by the ''DCPS'' gene. The scavenger mRNA decapping enzymes include Dcp2 and DcpS. DcpS is a scavenger pyrophosphatase that hydrolyses the residual cap structure following 3' to 5' mRNA degradation. DcpS uses cap dinucleotides or capped oligonucleotides as substrates to release m(7)GMP (N7-methyl GMP), while Dcp2 uses capped mRNA as a substrate in order to hydrolyse the cap to release m(7)GDP (N7-methyl GDP). The association of DcpS with 3' to 5' exonuclease exosome components suggests that these two activities are linked and there is a coupled exonucleolytic decay-dependent decapping pathway. The family contains a histidine triad (HIT) sequence in its C-terminal domain, with three histidines separated by hydrophobic residues. The central histidine within the DcpS HIT motif is critical for decapping activity and defines the HIT motif as a new mRNA decapping domain, making DcpS the first member of the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Syndromes
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 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] |
