Teunissen–Cremers Syndrome
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Teunissen–Cremers Syndrome
Teunissen–Cremers syndrome is a genetic disorder that presents with skeleton defects some of which can include the bones of the inner ear, fingers and toes. This can result in conductive hearing loss Conductive hearing loss (CHL) occurs when there is a problem transferring sound waves anywhere along the pathway through the outer ear, tympanic membrane (eardrum), or middle ear ( ossicles). If a conductive hearing loss occurs in conjunction wi ... and finger deformities. References Bert Teunissen, Cor Cremers. An autosomal dominant inherited syndrome with congenital stapes ankylosis. Laryngoscope 100: April 1990, 380-384 External links Genetic syndromes Deafness Skeletal disorders Syndromes {{Genetic-disorder-stub} ...
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Skeleton
A skeleton is the structural frame that supports the body of an animal. There are several types of skeletons, including the exoskeleton, which is the stable outer shell of an organism, the endoskeleton, which forms the support structure inside the body, and the hydroskeleton, a flexible internal skeleton supported by fluid pressure. Vertebrates are animals with a vertebral column, and their skeletons are typically composed of bone and cartilage. Invertebrates are animals that lack a vertebral column. The skeletons of invertebrates vary, including hard exoskeleton shells, plated endoskeletons, or Sponge spicule, spicules. Cartilage is a rigid connective tissue that is found in the skeletal systems of vertebrates and invertebrates. Etymology The term ''skeleton'' comes . ''Sceleton'' is an archaic form of the word. Classification Skeletons can be defined by several attributes. Solid skeletons consist of hard substances, such as bone, cartilage, or cuticle. These can be further ...
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Conductive Hearing Loss
Conductive hearing loss (CHL) occurs when there is a problem transferring sound waves anywhere along the pathway through the outer ear, tympanic membrane (eardrum), or middle ear ( ossicles). If a conductive hearing loss occurs in conjunction with a sensorineural hearing loss, it is referred to as a mixed hearing loss. Depending upon the severity and nature of the conductive loss, this type of hearing impairment can often be treated with surgical intervention or pharmaceuticals to partially or, in some cases, fully restore hearing acuity to within normal range. However, cases of permanent or chronic conductive hearing loss may require other treatment modalities such as hearing aid devices to improve detection of sound and speech perception. Causes Common causes of conductive hearing loss include: External ear * Cerumen (earwax) or foreign body in the external auditory canal * Otitis externa, infection or irritation of the outer ear * Exostoses, abnormal growth of bone withi ...
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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 ...
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Deafness
Deafness has varying definitions in cultural and medical contexts. In medical contexts, the meaning of deafness is hearing loss that precludes a person from understanding spoken language, an audiological condition. In this context it is written with a lower case ''d''. It later came to be used in a cultural context to refer to those who primarily communicate through sign language regardless of hearing ability, often capitalized as ''Deaf'' and referred to as "big D Deaf" in speech and sign. The two definitions overlap but are not identical, as hearing loss includes cases that are not severe enough to impact spoken language comprehension, while cultural Deafness includes hearing people who use sign language, such as children of deaf adults. Medical context In a medical context, deafness is defined as a degree of hearing difference such that a person is unable to understand speech, even in the presence of amplification. In profound deafness, even the highest intensity sound ...
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Skeletal Disorders
Bone disease refers to the medical conditions which affect the bone. Terminology A bone disease is also called an "osteopathy", but because the term osteopathy is often used to refer to an alternative health-care philosophy, use of the term can cause some confusion. Bone and cartilage disorders Osteochondrodysplasia is a general term for a disorder of the development of bone and cartilage. List A * Ambe * Avascular necrosis or Osteonecrosis * Arthritis B * Bone spur (Osteophytes) C * Craniosynostosis * Coffin–Lowry syndrome * Copenhagen disease F * Fibrodysplasia ossificans progressiva * Fibrous dysplasia * Fong disease (or Nail–patella syndrome) * Fracture G * Giant cell tumor of bone * Greenstick fracture * Gout H * Hypophosphatasia * Hereditary multiple exostoses K * Klippel–Feil syndrome M * Metabolic bone disease * Multiple myeloma N * Nail–patella syndrome O * Osteitis * Osteitis deformans (or Paget's disease of bone) * Osteitis fibr ...
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