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Franceschetti–Klein Syndrome
Franceschetti–Klein syndrome (also known as "mandibulofacial dysostosis") is a syndrome that includes palpebral antimongoloid fissures, hypoplasia of the facial bones, macrostomia, vaulted palate, malformations of both the external and internal ear, buccal-auricular fistula, abnormal development of the neck with stretching of the cheeks, accessory facial fissures, and skeletal deformities.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. .It is sometimes equated with Treacher Collins syndrome. See also * Dysostosis References External links Genodermatoses Congenital disorders of musculoskeletal system Rare syndromes {{Genodermatoses-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Palpebral Antimongoloid Fissure
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 in v ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypoplasia
Hypoplasia (from Ancient Greek ὑπo- ''hypo-'' 'under' + πλάσις ''plasis'' 'formation'; adjective form ''hypoplastic'') is underdevelopment or incomplete development of a tissue or organ. Dictionary of Cell and Molecular Biology (11 March 2008) Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells.Hypoplasia Stedman's Medical Dictionary. lww.com Hypoplasia is similar to |
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] |
Vaulted Palate
In architecture, a vault (French ''voûte'', from Italian ''volta'') is a self-supporting arched form, usually of stone or brick, serving to cover a space with a ceiling or roof. As in building an arch, a temporary support is needed while rings of voussoirs are constructed and the rings placed in position. Until the topmost voussoir, the keystone, is positioned, the vault is not self-supporting. Where timber is easily obtained, this temporary support is provided by centering consisting of a framed truss with a semicircular or segmental head, which supports the voussoirs until the ring of the whole arch is completed. Vault types Corbelled vaults, also called false vaults, with horizontally joined layers of stone have been documented since prehistoric times; in the 14th century BC from Mycenae. They were built regionally until modern times. The real vault construction with radially joined stones was already known to the Egyptians and Assyrians and was introduced into the build ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Treacher Collins Syndrome
Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree to which a person is affected, however, may vary from mild to severe. Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. Those affected generally have normal intelligence. TCS is usually autosomal dominant. More than half the time it occurs as a result of a new mutation rather than being inherited from a person's parents. The involved genes may include ''TCOF1'', ''POLR1C'', or ''POLR1D''. Diagnosis is generally suspected based on symptoms and X-rays, and potentially confirmation by genetic testing. Treacher Collins syndrome is not curable. Symptoms may be managed with reconstructive surgery, hearing aids, speech therapy, and other assistive devices. Life expectancy is generally normal. TCS occurs in about one in 50,000 people. The syndrome is named after Edward Treacher Collins, an English surgeon an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysostosis
A dysostosis is a disorder of the development of bone, in particular affecting ossification. Examples include craniofacial dysostosis, Klippel–Feil syndrome, and Rubinstein–Taybi syndrome. It is one of the two categories of constitutional disorders of bone (the other being osteochondrodysplasia). When the disorder involves the joint between two bones, the term ''synostosis Synostosis (plural: synostoses) is fusion of two or more bones. It can be normal in puberty, fusion of the epiphyseal plate to become the epiphyseal line, or abnormal. When synostosis is abnormal it is a type of dysostosis. Examples of synostoses ...'' is often used. References External links Congenital disorders of musculoskeletal system {{musculoskeletal-disease-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genodermatoses
Genodermatosis is a hereditary skin disease with three inherited modes including single gene inheritance, multiple gene inheritance and chromosome inheritance. There are many different types of genodermatosis, the prevalence of genodermatosis ranges from 1 per 6000 people to 1 per 500,000 people.Fields, D. (2019, June). Types of Genodermatoses. Retrieved September 08, 2020, from https://www.news-medical.net/health/Types-of-Genodermatoses.aspx Genodermatosis has influence on the texture, color and structure of skin cuticle and connective tissue, specific lesion site and clinical manifestations on the body vary depending on the type. In the spite of the variety and complexity of genodermatosis, there are still some common methods that can help people diagnose. After diagnosis, different types of genodermatosis require different levels of therapy including interventions, nursing interventions and treatments.Fondation René Touraine. (n.d.). Genodermatoses & Rare Skin Disorders - a publ ... [...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] |
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