|
Cross Syndrome
Cross–McKusick–Breen syndrome (also known as "Cross syndrome", "hypopigmentation and microphthalmia", and "oculocerebral-hypopigmentation syndrome") is an extremely rare disorder characterized by white skin, blond hair with yellow-gray metallic sheen, small eyes with cloudy corneas, jerky nystagmus, gingival fibromatosis and severe intellectual disability and physical retardation.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . It was characterized in 1967. See also * Oculocerebrocutaneous syndrome Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags. Presentation These include * Skin lesions ** Hypoplastic or aplastic skin defects ... * List of cutaneous conditions References External links * Disturbances of human pigmentation Genetic disorders with OMIM but no gene ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cornea
The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber. Along with the anterior chamber and lens, the cornea refracts light, accounting for approximately two-thirds of the eye's total optical power. In humans, the refractive power of the cornea is approximately 43 dioptres. The cornea can be reshaped by surgical procedures such as LASIK. While the cornea contributes most of the eye's focusing power, its focus is fixed. Accommodation (the refocusing of light to better view near objects) is accomplished by changing the geometry of the lens. Medical terms related to the cornea often start with the prefix "'' kerat-''" from the Greek word κέρας, ''horn''. Structure The cornea has unmyelinated nerve endings sensitive to touch, temperature and chemicals; a touch of the cornea causes an involuntary reflex to close the eyelid. Because transparency is of prime importance, the healthy cornea does not have or need blood vessels with ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pathologic Nystagmus
Nystagmus is a condition of involuntary (or voluntary, in some cases) eye movement. Infants can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in reduced or limited vision. Due to the involuntary movement of the eye, it has been called "dancing eyes". In normal eyesight, while the head rotates about an axis, distant visual images are sustained by rotating eyes in the opposite direction of the respective axis. The semicircular canals in the vestibule of the ear sense angular acceleration, and send signals to the nuclei for eye movement in the brain. From here, a signal is relayed to the extraocular muscles to allow one's gaze to fix on an object as the head moves. Nystagmus occurs when the semicircular canals are stimulated (e.g., by means of the caloric test, or by disease) while the head is stationary. The direction of ocular movement is related to the semicircular canal that is being stimulated. There are two key forms of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gingival Fibromatosis
Hereditary gingival fibromatosis (HGF), also known as idiopathic gingival hyperplasia, is a rare condition of gingival overgrowth.Poulami Majumder, Vineet Nair, Malancha Mukherjee, Sujoy Ghosh, and Subrata Kumar Dey, "The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis", Case Reports in Dentistry, vol. 2013, Article ID 432864, 4 pages, 2013. doi:10.1155/2013/432864 HGF is characterized as a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of keratinized gingiva. It can cover teeth in various degrees, and can lead to aesthetic disfigurement.Thomas C. Hart, Yingze Zhang, Michael C. Gorry, P. Suzanne Hart, Margaret Cooper, Mary L. Marazita, Jared M. Marks, Jose R. Cortelli, Debora Pallos Am J Hum Genet. 2002 April; 70(4): 943–954. Published online 2002 February 26. Fibrous enlargement is most common in areas of maxillary and mandibular tissues of both arches in the mouth. Phenotype and genotype frequency of HGF is 1:175,000 where males and fema ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intellectual Disability
Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits in two or more adaptive behaviors that affect everyday, general living. Intellectual functions are defined under DSM-V as reasoning, problem‑solving, planning, abstract thinking, judgment, academic learning, and learning from instruction and experience, and practical understanding confirmed by both clinical assessment and standardized tests. Adaptive behavior is defined in terms of conceptual, social, and practical skills involving tasks performed by people in their everyday lives. Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oculocerebrocutaneous Syndrome
Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags. Presentation These include * Skin lesions ** Hypoplastic or aplastic skin defects ** Pedunculated, hamartomatous or nodular skin appendages * Eye lesions **Cystic microphthalmia * Brain lesions ** Forebrain anomalies *** Agenesis of the corpus callosum *** Enlarged lateral ventricles *** Interhemispheric cysts *** Hydrocephalus *** Polymicrogyria *** Periventricular nodular heterotopia ** Mid-hindbrain malformation *** Giant dysplastic tectum *** Absent cerebellar vermis *** Small cerebellar hemispheres *** Large posterior fossa fluid collections Genetics This is not understood but it is suspected that the gene(s) responsible may lie on the X chromosome. Diagnosis Differential diagnosis * Aicardi syndrome * Encephalocraniocutaneous lipomatosis * Focal dermal hypoplasia * Oculo-auriculo-vertebral spectrum Epidemio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Cutaneous Conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. The skin weighs an average of four kilograms, covers an area of two square metres, and is made of three distinct layers: the epidermis, dermis, and subcutaneous tissue. The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin.Burns, Tony; ''et al''. (2006) ''Rook's Textbook of Dermatology CD-ROM''. Wiley-Blackwell. . Within the latter type, the hairs occur in structures called pilosebaceous units, each with hair follicle, sebaceous gland, and associated arrector pili muscle. In the embryo, the epidermis, hair, and glands form from the ectoderm, which is chemically influenced by the underlying mesoderm th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ILDS
The International League of Dermatological Societies (ILDS) is a non-governmental organization that works closely with the World Health Organization. It was founded in 1935, but because of World War II no congresses were held until 1952. It is governed by the International Committee of Dermatology. The ILDS is the parent organization of the International Foundation for Dermatology, founded in 1987. After the publication of ICD-10, the ILDS produced a series of compatible extensions for use in dermatology Dermatology is the branch of medicine dealing with the skin.''Random House Webster's Unabridged Dictionary.'' Random House, Inc. 2001. Page 537. . It is a speciality with both medical and surgical aspects. A dermatologist is a specialist medical .... References External links Official site HistoryInternational Foundation for DermatologyApplication to Dermatology of International Classification of Disease (ICD-11) Organizations established in 1935 Dermatology organi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Disturbances Of Human Pigmentation
Disturbance and its variants may refer to: Math and science * Disturbance (ecology), a temporary change in average environmental conditions that causes a pronounced change in an ecosystem * Disturbance (geology), linear zone of faults and folds * Sudden ionospheric disturbance, an abnormally high plasma density in the D region of the ionosphere caused by a solar flare * Disturbance (statistics), the deviation of the observed value from the (unobservable) true function value * Serious emotional disturbance, a mental illness Arts and media Film * Disturbance (2014 film), a section, and former title, of the film ''Tales of the Supernatural'' * ''Disturbance'' (1942 film), an Italian drama film * ''Domestic Disturbance'', a 2001 American psychological thriller film Music * ''Disturbance'' (Concord Dawn album), 2001 * ''Disturbance'' (Test Dept. album), 2019 * "Disturbance" (BoA song) , a 2013 digital single by South Korean singer BoA * "Disturbance," a song by Eyehategod f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disorders With OMIM But No Gene
Genetic may refer to: *Genetics, in biology, the science of genes, heredity, and the variation of organisms **Genetic, used as an adjective, refers to genes ***Genetic disorder, any disorder caused by a genetic mutation, whether inherited or de novo ***Genetic mutation, a change in a gene ****Heredity, genes and their mutations being passed from parents to offspring **Genetic recombination, refers to the recombining of alleles resulting in a new molecule of DNA *Genetic relationship (linguistics), in linguistics, a relationship between two languages with a common ancestor language *Genetic algorithm In computer science and operations research, a genetic algorithm (GA) is a metaheuristic inspired by the process of natural selection that belongs to the larger class of evolutionary algorithms (EA). Genetic algorithms are commonly used to gene ..., in computer science, a kind of search technique modeled on evolutionary biology See also * Genetic memory (other) {{disam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
