|
Michels Syndrome
Michels syndrome is a syndrome characterised by intellectual disability, craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, highly arched eyebrows, and hypertelorism. People with Michels syndrome vary in other symptoms such as asymmetry of the skull, eyelid, and anterior chamber anomalies, cleft lip and palate, umbilical anomalies, and growth and cognitive development. See also * Malpuech facial clefting syndrome Malpuech facial clefting syndrome, also called Malpuech syndrome or Gypsy type facial clefting syndrome, is a rare congenital syndrome. It is characterized by facial clefting (any type of cleft in the bones and tissues of the face, including a cl ..., another condition in the 3MC spectrum References External links Syndromes with craniofacial abnormalities Congenital disorders Autosomal recessive disorders Rare syndromes {{genetic-disorder-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anterior Chamber
The anterior chamber ( AC) is the aqueous humor-filled space inside the eye between the iris and the cornea's innermost surface, the endothelium. Hyphema, anterior uveitis and glaucoma are three main pathologies in this area. In hyphema, blood fills the anterior chamber as a result of a hemorrhage, most commonly after a blunt eye injury. Anterior uveitis is an inflammatory process affecting the iris and ciliary body, with resulting inflammatory signs in the anterior chamber. In glaucoma, blockage of the trabecular meshwork prevents the normal outflow of aqueous humour, resulting in increased intraocular pressure, progressive damage to the optic nerve head, and eventually blindness. The depth of the anterior chamber of the eye varies between 1.5 and 4.0 mm, averaging 3.0 mm. It tends to become shallower at older age and in eyes with hypermetropia (far sightedness). As depth decreases below 2.5 mm, the risk for angle closure glaucoma increases. Clinical significance ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disorders
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 vi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes With Craniofacial Abnormalities
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 syn ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Malpuech Facial Clefting Syndrome
Malpuech facial clefting syndrome, also called Malpuech syndrome or Gypsy type facial clefting syndrome, is a rare congenital syndrome. It is characterized by facial clefting (any type of cleft in the bones and tissues of the face, including a cleft lip and palate), a caudal appendage (a "human tail"), growth deficiency, intellectual and developmental disability, and abnormalities of the renal system (kidneys) and the male genitalia. Abnormalities of the heart, and other skeletal malformations may also be present. The syndrome was initially described by Georges Malpuech and associates in 1983. It is thought to be genetically related to Juberg-Hayward syndrome. Malpuech syndrome has also been considered as part of a spectrum of congenital genetic disorders associated with similar facial, urogenital and skeletal anomalies. Termed "3MC syndrome", this proposed spectrum includes Malpuech, Michels and Mingarelli-Carnevale (OSA) syndromes. Mutations in the '' COLLEC11'' and '' MASP1'' g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cognitive Development
Cognitive development is a field of study in neuroscience and psychology focusing on a child's development in terms of information processing, conceptual resources, perceptual skill, language learning, and other aspects of the developed adult brain and cognitive psychology. Qualitative differences between how a child processes their waking experience and how an adult processes their waking experience are acknowledged (such as object permanence, the understanding of logical relations, and cause-effect reasoning in school-age children). Cognitive development is defined as the emergence of the ability to consciously cognize, understand, and articulate their understanding in adult terms. Cognitive development is how a person perceives, thinks, and gains understanding of their world through the relations of genetic and learning factors. There are four stages to cognitive information development. They are, reasoning, intelligence, language, and memory. These stages start when the baby ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Human Development (biology)
Development of the human body is the process of growth to maturity. The process begins with fertilization, where an egg released from the ovary of a female is penetrated by a sperm cell from a male. The resulting zygote develops through mitosis and cell differentiation, and the resulting embryo then implants in the uterus, where the embryo continues development through a fetal stage until birth. Further growth and development continues after birth, and includes both physical and psychological development, influenced by genetic, hormonal, environmental and other factors. This continues throughout life: through childhood and adolescence into adulthood. Before birth Development before birth, or prenatal development () is the process in which a zygote, and later an embryo and then a fetus develops during gestation. Prenatal development starts with fertilization and the formation of the zygote, the first stage in embryonic development which continues in fetal develo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Umbilical Anomalies
Umbilical may refer to: * Umbilical cable * Umbilical cord *Umbilical fold *Umbilical hernia *Umbilical notch *Umbilical vessels ** Umbilical artery ** Umbilical vein *Umbilical zone * The Umbilical Brothers, two Australian comedic performers, David and Shane * Umbilical point, a locally spherical point on a mathematical surface. * Umbilical region *Umbilical (album), a 2011 album of Tiago Iorc, Brazilian musician *"Umbilical", a song by Arca from ''Sheep Sheep or domestic sheep (''Ovis aries'') are domesticated, ruminant mammals typically kept as livestock. Although the term ''sheep'' can apply to other species in the genus ''Ovis'', in everyday usage it almost always refers to domesticated s ...'' See also * Umbilicus (other) {{disambig ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cleft Lip And 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 surge ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Eyelid
An eyelid is a thin fold of skin that covers and protects an eye. The levator palpebrae superioris muscle retracts the eyelid, exposing the cornea to the outside, giving vision. This can be either voluntarily or involuntarily. The human eyelid features a row of eyelashes along the eyelid margin, which serve to heighten the protection of the eye from dust and foreign debris, as well as from perspiration. "Palpebral" (and "blepharal") means relating to the eyelids. Its key function is to regularly spread the tears and other secretions on the eye surface to keep it moist, since the cornea must be continuously moist. They keep the eyes from drying out when asleep. Moreover, the blink reflex protects the eye from foreign bodies. The appearance of the human upper eyelid often varies between different populations. The prevalence of an epicanthic fold covering the inner corner of the eye account for the majority of East Asian and Southeast Asian populations, and is also found i ... [...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] |
