medical meaning: joubert syndrome
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- joubert's syndrome. joubert's syndrome in Medicine. Joubert's syndrome Jou·bert's syndrome (zhōō-běrz') n. A syndrome of neurological disorders caused by agenesis of the vermis of the brain and characterized by attacks of tachypnea or prolonged apnea, abnormal eye movements, ataxia, and mental retardation.
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menopause Synonym(s): climacteric syndrome. The cessation of menstrual activity in women due to failure to form ovarian follicles, which normally occurs at age 45–50; menopause < age of 40 is considered premature. Clinical findings.
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Top 40 Doctor insights on: Proteus Vulgaris Symptoms What are the symptoms of proteus syndrome? Proteus Syndrome: Proteus syndrome, also known as wiedemann syndrome (named after the german paediatrician hans-rudolf wiedemann), is a congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors over half the body.
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Proteus syndrome Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body.The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently.roteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body.
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Marfan syndrome Definition of Marfan syndrome : a disorder of connective tissue that is inherited as a dominant trait and is characterized by abnormal elongation of the long bones and often by ocular and circulatory defects — called also Mar*fan's syndrome \ ˈmär-ˌfanz-\
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Joubert syndrome Summary Summary. Joubert syndrome is disorder of brain development that may affect many parts of the body. It is characterized by the absence or underdevelopment of the cerebellar vermis (a part of the brain that controls balance and coordination) and a malformed brain stem (connection between the brain and spinal cord).
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Angelman syndrome Angelman syndrome (/ˈeɪndʒəlmən/ ; abbreviated AS) is a neuro-genetic disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor.he sister syndrome, Prader-Willi syndrome, is caused by a similar loss of paternally inherited genes and maternal imprinting. AS is named after a British pediatrician, Harry Angelman, who first described the syndrome in 1965.
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Trisomy 13 Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body.
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Background Schwartz-Jampel syndrome (SJS) is a term now applied to 2 different inherited, autosomal recessive conditions, sometimes termed SJS type I and SJS type II.
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- Coffin-Lowry syndrome is a rare genetic disorder characterized by mental retardation; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature; and/or various skeletal abnormalities.
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Angelman syndrome Angelman syndrome (/ˈeɪndʒəlmən/ ; abbreviated AS) is a neuro-genetic disorder characterized by severe intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor.ngelman syndrome is caused by the loss of the normal maternal contribution to a region of chromosome 15, most commonly by deletion of a segment of that chromosome. Other causes include uniparental disomy, translocation, or single gene mutation in that region.
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Paget disease Paget disease of bone-osteitis deformans. Synonym(s): Paget II syndrome. Paget disease of the nipple-ductal carcinoma. Paget disease of the penis-carcinoma that develops after balanitis.
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Frey's Syndrome Frey’s Syndrome, also known as Gustatory Sweating Syndrome, is a disorder that occurs due to a facial nerve injury, after a surgical procedure is performed (for various reasons), on the parotid gland
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- The prevalence of Joubert syndrome has been estimated from to be 1:258,000 (Flannery & Hudson, 1994; Badhwar et al., 2000). In our study, 19 cases were reported in 2 general hospitals draining about 750.000 people within 5 years of study, so the prevalence is a little higher.
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Proteus syndrome Proteus syndrome. Description. Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently.
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What is Joubert Syndrome? Joubert Syndrome: A rare neurological disorder where there is a defect in the part of the brain that controls coordination and balance. Joubert Syndrome: Partial or complete absence of the cerebellar vermis, episodic tachypnea, neonatal apnea, jerky eye movements, hypotonia, ataxia, impaired equilibrium, and mental handicap.
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Asherson's Syndrome Asherson's syndrome is an extremely rare autoimmune disorder characterized by the development, over a period of hours, days or weeks, of rapidly progressive blood clots affecting multiple organ systems of the body.
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JOUBERT SYNDROME 1; JBTS1 A number sign (#) is used with this entry because Joubert syndrome-1 (JBTS1) is caused by homozygous mutation in the INPP5E gene (613037) on chromosome 9q34. Description.
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Joubert syndrome Joubert syndrome - agenesis of the cerebellar vermis, characterized by tachypnea or prolonged apnea, abnormal eye movements, ataxia, and mental retardation. Jou·bert syn·drome. Agenesis of cerebellar vermis, characterized clinically by attacks of tachypnea or prolonged apnea, abnormal eye movements, and ataxia.
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- 1 Rothmund-Thomson Syndrome (RTS) is a rare genetic disorder that can affect people of all races and nationalities. Symptoms often first appear during infancy, usually between three and six months of age, in the form of a skin rash on the cheeks. Patients can have just a few or several features of the syndrome.
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Dressler's syndrome Medical Definition of Dressler's syndrome. : pericarditis after heart attack or open-heart surgery that is often recurrent and is typically accompanied by chest pain, fever, malaise, difficulty in breathing, pleurisy, and pericardial and pleural effusions.
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Browse A-Z Congenital nonprogressive myopathy with Moebius and Robin sequences, also known as Carey Fineman Ziter syndrome, is characterized by the association of hypotonia, Moebius sequence, Pierre-Robin sequence, unusual facial features, and growth delay. The condition appears to be inherited in an autosomal recessive manner.
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Joubert syndrome Joubert syndrome. Description. Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
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Raynaud syndrome Raynaud syndrome or Renaud's syndrome is a medical condition in which there are episodes of reduced blood flow due to spasm of arteries. Typically the fingers and less commonly the toes are involved. Rarely, the nose, ears, or lips are affected. The episodes result in the affected part turning white and then blue.
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Pfeiffer syndrome Pfeiffer syndrome. Pfeiffer syndrome is a very rare genetic disorder characterized by the premature fusion of certain bones of the skull which affects the shape of the head and face. In addition, the syndrome includes abnormalities of the hands (such as wide and deviated thumbs) and feet (such as wide and deviated big toes).
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- Marfan syndrome (MFS) is a genetic disorder of the connective tissue.[2] The degree to which people are affected varies. People with Marfan tend to be tall, and thin, with long arms, legs, fingers and toes.