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Marfanoid Habitus
Marfanoid (or Marfanoid habitus) is a constellation of Symptom, symptoms resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 of the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity. __TOC__ Signs and symptoms Arachnodactyly (long fingers), Dolichostenomelia, long limbs, scoliosis (curved spine), a hidden feature of bony lip growth towards vestibular aqueduct (which can be seen in CT scan reports), and imprecise articulation of speech due to high-arched palate are all considered Marfanoid symptoms. Language and cognition can be affected in neonatal Marfan syndrome where intellectual disability exists. Hearing may be impaired, either by conductive loss due to hypermobility of ossicles, by inflamed tympanic membrane, or sensorineurally through the vestibular aqueduct. In cases with hearing impairment, giddiness and imbalance may co-occur. Other symptoms include cr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Symptom
Signs and symptoms are the observed or detectable signs, and experienced symptoms of an illness, injury, or condition. A sign for example may be a higher or lower temperature than normal, raised or lowered blood pressure or an abnormality showing on a medical scan. A symptom is something out of the ordinary that is experienced by an individual such as feeling feverish, a headache or other pain or pains in the body. Signs and symptoms Signs A medical sign is an objective observable indication of a disease, injury, or abnormal physiological state that may be detected during a physical examination, examining the patient history, or diagnostic procedure. These signs are visible or otherwise detectable such as a rash or bruise. Medical signs, along with symptoms, assist in formulating diagnostic hypothesis. Examples of signs include elevated blood pressure, nail clubbing of the fingernails or toenails, staggering gait, and arcus senilis and arcus juvenilis of the eyes. Indicati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Vestibular Aqueduct
At the hinder part of the medial wall of the vestibule is the orifice of the vestibular aqueduct, which extends to the posterior surface of the petrous portion of the temporal bone. It transmits a small vein, and contains a tubular prolongation of the membranous labyrinth, the ductus endolymphaticus, which ends in a cul-de-sac, the endolymphatic sac, between the layers of the dura mater within the cranial cavity. Pathology Enlargement of the vestibular aqueduct to greater than 2 mm is associated with enlarged vestibular aqueduct syndrome, a disease entity that is associated with one-sided hearing loss in children. The diagnosis can be made by high resolution CT or MRI, with comparison to the adjacent posterior semicircular canal. If the vestibular aqueduct is larger in size, and the clinical presentation is consistent, the diagnosis can be made. Treatment is with mechanical hearing implants. There is an association with Pendred syndrome Pendred syndrome is a genetic d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Perrault Syndrome
Perrault may refer to: * Perrault (surname), people with the surname * Perrault (horse) {{Infobox racehorse , horsename = Perrault , image = , caption = , sire = Djakao , grandsire = Tanerko , dam = Innocent Air , damsire = Court Martial , sex = Stallion , foaled = 1977 , country = Great Britain , colour = Chestnut , b ..., a British-bred Thoroughbred racehorse * Perrault, Ontario, Canada See also * Perreault * Perrault shorthand, an English adaptation of the Duployan shorthand {{disambiguation, surname French-language surnames ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SMS (gene)
Spermine synthase is an enzyme that in humans is encoded by the ''SMS'' gene. The protein encoded by this gene belongs to the spermidine/spermine synthases family. This gene encodes a ubiquitous enzyme of polyamine metabolism. Model organisms Model organisms have been used in the study of SMS function. A conditional knockout mouse line, called ''Smstm1a(EUCOMM)Wtsi'' was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists. Male and female animals underwent a standardized phenotypic screen In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological prop ... to determine the effects of deletion. Twenty three tests were carried out on mutant mice and six signi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Snyder–Robinson Syndrome
Snyder–Robinson syndrome (SRS) is an extremely rare inherited genetic disorder characterized by muscular and skeletal abnormalities, varying degrees of intellectual disability, seizures, and slow development. SRS is caused by a mutated ''SMS'' gene at chromosome Xp21.3-p22.12, which carries instructions for producing the enzyme spermine synthase. Spermine synthase in turn helps the body produce spermine, a polyamine critical to cell processes such as cell division, tissue repair, and apoptosis. The resulting shortage of spermine in cells causes problems with development and brain function, though the exact mechanism is not understood. The syndrome has also been referred to as Snyder–Robinson X-linked mental retardation syndrome (MRXSSR) and spermine synthase deficiency. SRS exclusively affects males. Only about ten families currently have a child with SRS, and 50 people have been diagnosed worldwide since 1969. Presentation Snyder–Robinson usually is noticeable in infants, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Homocystinuria
Homocystinuria or HCU is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected. Symptoms of homocystinuria can also be caused by a deficiency of vitamins B6, B12, or folate. Signs and symptoms This defect leads to a multi-systemic disorder of the connective tissue, muscles, central nervous system (CNS), and cardiovascular system. Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of the amino acid homocysteine in the serum and an increased excretion of homocysteine in the urine. Infants appear to be normal and early symptoms, if any are present, are vague. Signs and symptoms of homocystinuria that may be seen include the following: Cause It is usually caused by the deficiency of the enzyme cystathi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tympanic Membrane
In the anatomy of humans and various other tetrapods, the eardrum, also called the tympanic membrane or myringa, is a thin, cone-shaped membrane that separates the external ear from the middle ear. Its function is to transmit sound from the air to the ossicles inside the middle ear, and then to the oval window in the fluid-filled cochlea. Hence, it ultimately converts and amplifies vibration in the air to vibration in cochlear fluid. The malleus bone bridges the gap between the eardrum and the other ossicles. Rupture or perforation of the eardrum can lead to conductive hearing loss. Collapse or retraction of the eardrum can cause conductive hearing loss or cholesteatoma. Structure Orientation and relations The tympanic membrane is oriented obliquely in the anteroposterior, mediolateral, and superoinferior planes. Consequently, its superoposterior end lies lateral to its anteroinferior end. Anatomically, it relates superiorly to the middle cranial fossa, posteriorly to the o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Marfan Syndrome
Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have exceptionally flexible joints and abnormally curved spines. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected. The severity of the symptoms is variable. MFS is caused by a mutation in ''FBN1'', one of the genes that makes fibrillin, which results in abnormal connective tissue. It is an autosomal dominant disorder. In about 75% of cases, it is inherited from a parent with the condition, while in about 25% it is a new mutation. Diagnosis is often based on the Ghent criteria. There is no known cure for MFS. Many of those with the disorder have a normal life expectancy with proper treatment. Management of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ossicles
The ossicles (also called auditory ossicles) are three bones in either middle ear that are among the smallest bones in the human body. They serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea). The absence of the auditory ossicles would constitute a moderate-to-severe hearing loss. The term "ossicle" literally means "tiny bone". Though the term may refer to any small bone throughout the body, it typically refers to the malleus, incus, and stapes (hammer, anvil, and stirrup) of the middle ear. Structure The ossicles are, in order from the eardrum to the inner ear (from superficial to deep): the malleus, incus, and stapes, terms that in Latin are translated as "the hammer, anvil, and stirrup". * The malleus ( la, "hammer") articulates with the incus through the incudomalleolar joint and is attached to the tympanic membrane (eardrum), from which vibrational sound pressure motion is passed. * The incus ( la, "anvil") is connected to both the other bones. * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
High-arched Palate
A high-arched palate (also termed high-vaulted palate) is where the palate is unusually high and narrow. It is usually a congenital developmental feature that results from the failure of the palatal shelves to fuse correctly in development, the same phenomenon that leads to cleft palate. It may occur in isolation or in association with a number of conditions. It may also be an acquired condition caused by chronic thumb-sucking. A high-arched palate may result in a narrowed airway and sleep disordered breathing. Examples of conditions which may be associated with a high-arched palate include: * Allergic rhinitis * Apert syndrome * Crouzon syndrome * Down syndrome * Ehlers-Danlos Syndrome * Fragile X syndrome * Incontinentia pigmenti * Marfan syndrome * Treacher Collins syndrome * Upper Airway Resistance Syndrome See also * Minor physical anomalies * Bardet–Biedl syndrome Bardet–Biedl syndrome (BBS) is a ciliopathic human genetic disorder that produces many effects a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
