|
Narrow Face
Narrow face is a dysmorphic feature in which its width is abnormally reduced (upper and lower face width less than 2 SD below the mean subjectively, or apparent reduction of the width of the upper and lower face objectively). Syndromes (conditions) Narrow face is seen in the following conditions and syndromes: * 5p partial monosomy syndrome * Bloom syndrome * Branchiootorenal syndrome 1 * Cardiofaciocutaneous syndrome 4 * Christianson syndrome * Congenital disorder of glycosylation, type IIw * Congenital myasthenic syndrome 2A * Congenital myopathy 4A, autosomal dominant * Congenital myopathy 4B, autosomal recessive * Creatine transporter deficiency * Cutis laxa, X-linked * Ehlers-Danlos syndrome, Beasley-Cohen type * Granulocytopenia with immunoglobulin abnormality * Hereditary spastic paraplegia 23 and 51 * Intellectual disability, autosomal recessive 5 * Intellectual disability, X-linked 107, 58, and 61 * Knobloch syndrome * Marfan syndrome * Mitochondrial DNA depletion ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Turricephaly
Turricephaly is a type of cephalic disorder where the head appears tall with a small length and width. It is due to premature closure of the coronal suture plus any other suture, like the lambdoid, or it may be used to describe the premature fusion of all sutures. It should be differentiated from Crouzon syndrome. Oxycephaly (or acrocephaly) is a form of turricephaly where the head is cone-shaped, and is the most severe of the craniosynostoses. Presentation Common associations It may be associated with: * 8th cranial nerve lesion * Optic nerve compression * Intellectual disability * Syndactyly Diagnosis Treatment See also * Acrocephalosyndactylia Acrocephalosyndactyly is a group of autosomal dominant congenital disorders characterized by craniofacial (craniosynostosis) and hand and foot (syndactyly) abnormalities. When polydactyly is present, the classification is acrocephalopolysyndactyl ... References Further reading NINDS Overview* External links Congenit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Extrapyramidal Signs
Extrapyramidal symptoms (EPS) are symptoms that are archetypically associated with the extrapyramidal system of the brain's cerebral cortex. When such symptoms are caused by medications or other drugs, they are also known as extrapyramidal side effects (EPSE). The symptoms can be acute (short-term) or chronic (long-term). They include movement dysfunction such as dystonia (continuous spasms and muscle contractions), akathisia (may manifest as motor restlessness), parkinsonism characteristic symptoms such as rigidity, bradykinesia (slowness of movement), tremor, and tardive dyskinesia (irregular, jerky movements). Extrapyramidal symptoms are a reason why subjects drop out of clinical trials of antipsychotics; of the 213 (14.6%) subjects that dropped out of one of the largest clinical trials of antipsychotics (the CATIE trial (Clinical Antipsychotic Trials for Intervention Effectiveness), which included 1460 randomized subjects), 58 (27.2%) of those discontinuations were due to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myopathy
In medicine, myopathy is a disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness. ''Myopathy'' means muscle disease (Greek : myo- ''muscle'' + patheia '' -pathy'' : ''suffering''). This meaning implies that the primary defect is within the muscle, as opposed to the nerves (" neuropathies" or " neurogenic" disorders) or elsewhere (e.g., the brain). Muscle cramps, stiffness, and spasm can also be associated with myopathy. Capture myopathy can occur in wild or captive animals, such as deer and kangaroos, and leads to morbidity and mortality. It usually occurs as a result of stress and physical exertion during capture and restraint. Muscular disease can be classified as neuromuscular or musculoskeletal in nature. Some conditions, such as myositis, can be considered both neuromuscular and musculoskeletal. Signs and symptoms Common symptoms include muscle weakness, cramps, stiffness, and tetany. Systemic diseases M ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Otofaciocervical Syndrome
Otofaciocervical syndrome, also known as Fara Chlupackova syndrome, are a small group of rare developmental disorders of genetic origin which are characterized by facial dysmorphisms, long neck, preauricular and/or branchial pits, cervical muscle hypoplasia, hearing loss, and mild intellectual disabilities. Additional findings include vertebral anomalies and short stature. Types There are two types of OFC: Otofaciocervical syndrome type 1 It is characterized by facial dysmorphisms, low-set cup-shaped ears, preauricular sinus or cyst, hearing loss, branchial and skeletal anomalies, low-set clavicle bones, winged scapulae, sloping shoulders and mild intellectual disabilities. It is caused by autosomal dominant mutations in the EYA1 gene in chromosome 8. Only 11 cases have been reported in medical literature. Otofaciocervical syndrome type 2 It is characterized by the same symptoms in type 1, this disorder is different from type 1 because of its genetic cause ''and'' be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oculofaciocardiodental Syndrome
Oculofaciocardiodental syndrome is a rare X-linked dominant genetic disorder. Presentation The incidence of this condition is less than 1 per million. It is primarily only found in females. Its highly rare in males, but some males were born with it. Teeth with large roots (radiculomegaly), heart defects and small eyes (microphthalmia) are the characteristic triad found in this syndrome. Typical features of the condition include: * Face ** Deep set eyes ** Broad nasal tip divided by a cleft * Eyes ** Microphthalmia (small eyes) ** Early cataracts ** Glaucoma * Teeth ** Radiculomegaly (teeth with very large roots) ** Delayed loss of primary teeth ** Missing (oligodontia) or abnormally small teeth ** Misaligned teeth ** Defective tooth enamel * Heart defects ** Atrial and/or ventricular defects ** Mitral valve prolapse * Mild intellectual disability and conductive or sensorineural hearing loss may occur. Genetics This condition is caused by lesions in the '' BCOR'' gene locate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitochondrial DNA Depletion Syndrome
Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop in mitochondrial DNA in affected tissues. Symptoms can be any combination of myopathic, hepatopathic, or encephalomyopathic. These syndromes affect tissue in the muscle, liver, or both the muscle and brain, respectively. The condition is typically fatal in infancy and early childhood, though some have survived to their teenage years with the myopathic variant and some have survived into adulthood with the SUCLA2 encephalomyopathic variant. There is currently no curative treatment for any form of MDDS, though some preliminary treatments have shown a reduction in symptoms. Signs and symptoms All forms of MDDS are very rare. MDDS causes a wide range of symptoms, which can appear in newborns, infants, children, or adults, depending on the class of MDDS; within each class symptoms are also diverse. In MDDS associated with mutation ... [...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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Knobloch Syndrome
Knobloch syndrome is a rare genetic disorder presenting severe eyesight problems and often a defect in the skull. It was named after the ophthalmologist William Hunter Knobloch (1926 - 2005), who first described the syndrome in 1971. A usual occurrence is a degeneration of the vitreous humour and the retina, two components of the eye. This breakdown often results in the separation of the retina (the light-sensitive tissue at the back of the eye) from the eye, called retinal detachment, which can be recurrent. Extreme myopia (near-sightedness) is a common feature. The limited evidence available from electroretinography suggests that a cone-rod pattern of dysfunction is also a feature. Knobloch syndrome is caused by mutations in an autosomal recessive inherited gene. These mutations have been found in the COL18A1 gene that instructs for the formation of a protein that builds collagen XVIII. This type of collagen is found in the basement membranes of various body tissues. Its de ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Intellectual Disability
X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability. As with most X-linked disorders, males are more heavily affected than females. Females with one affected X chromosome and one normal X chromosome tend to have milder symptoms. Unlike many other types of intellectual disability, the genetics of these conditions are relatively well understood. It has been estimated there are ~200 genes involved in this syndrome; of these ~100 have been identified. Many of these genes are found on the short 'p' arm of the chromosome, and duplications at Xp11.2 are associated with the syndromic form of the condition. X-linked intellectual disability accounts for ~16% of all cases of intellectual disability in males. Syndromes Several X-linked syndromes include intellectual disability as part of the presentation. These include: * Coffin–Lowry syndrome * DDX3X syndrome * MASA syndrome * MECP2 duplicat ... [...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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
