Detailed Information on Muenke Syndrome
Posted on November 5, 2008 - Filed Under Health | Leave a Comment
Muenke Syndrome, also known as FGFR3-related craniosynostosis.
Muenke syndrome is an inherited condition characterized by the early closure of certain bones of the skull (coronal synostosis), which affects the shape of the head and face. Many people with this disorder have a premature fusion of skull bones along the coronal suture, the growth line which goes over the head from ear to ear. Other parts of the skull may be malformed as well. These changes can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. Muenke syndrome occurs in about 1 in 30,000 newborns.
Detailed Information on Marinesco-Sjogren syndrome
Posted on October 30, 2008 - Filed Under Uncategorized | Leave a Comment
Marinesco-Sjogren syndrome can be related with mutations of the SIL1 gene, and a mutation can be found in about 50% of cases.
Marinesco-Sjögren syndrome is a unusual autosomal recessive disorder characterized by cerebellar atrophy, ataxia, cataracts, short stature and varying degrees of mental retardation. The illness is usually evident at birth because of hypotonia (floppiness). The cataracts appear during childhood. Motor milestones are delayed with ataxia apparent by the time the child can sit. Most patients are eventually able to ambulate with a walker. Mental retardation is usually mild to moderate in severity.
Detailed Information on Muenke Syndrome
Posted on October 30, 2008 - Filed Under Uncategorized | Leave a Comment
Muenke Syndrome, also known as FGFR3-related craniosynostosis.
Muenke syndrome is an inherited condition characterized by the early closure of certain bones of the skull (coronal synostosis), which affects the shape of the head and face. Many people with this disorder have a premature fusion of skull bones along the coronal suture, the growth line which goes over the head from ear to ear. Other parts of the skull may be malformed as well. These changes can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. Muenke syndrome occurs in about 1 in 30,000 newborns.
Hairy tongue
Posted on October 28, 2008 - Filed Under Health | Leave a Comment
Hairy tongue can occur at any age.
Hairy tongue, also known as black tongue, is a gentle condition of elongation and staining of the fingerlike projections (papillae) on the tongue surface. This condition may be caused by overgrowth of a bacteria or yeast that produces a colored substance. Hairy tongue is rarely symptomatic, although overgrowth of Candida albicans may consequence in glossopyrosis. Medications that commonly cause hairy tongue comprise antibiotics, anti-psychotics, anti-depressants, and anti-cholinergic agents.
Greig cephalopolysyndactyly syndrome
Posted on October 25, 2008 - Filed Under Uncategorized | Leave a Comment
Greig Cephalopolysyndactyly Syndrome does not seem to affect a precise population. It occurs equally in males and females.
Greig cephalopolysyndactyly syndrome (GCPS) is a rare inherited disorder characterized by bodily abnormalities affecting the fingers and toes (digits) and the head and facial (craniofacial) area. The skin between the fingers and toes may be fused (cutaneous syndactyly). Greig Cephalopolysyndactyly Syndrome is caused by a gene with a change or mutation that is inherited from a parent. The gene that causes these abnormalities is named GLI3 and is situated on chromosome 7.
Hemochromatosis
Posted on October 9, 2008 - Filed Under Health | Leave a Comment
Hemochromatosis is the most common form of iron overload disease.
Hemochromatosis is characterized by excessive absorption of dietary iron resulting in a pathological increase in total body iron stores. The excess iron is stored in the body’s tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Hereditary hemochromatosis is mainly caused by a defect in a gene called HFE, which helps regulate the amount of iron absorbed from food.
Hailey-Hailey disease
Posted on September 27, 2008 - Filed Under Health | Leave a Comment
Hailey-Hailey disease is also known as familial benign chronic pemphigus.
Hailey-Hailey disease is a rare disease of the skin. It can begin at any age, but it is most common in the late teenage years, twenties and thirties. Typically it appears as thin walled blisters that easily rupture into erosions. The blisters are rarely seen because they break so easily. Hailey-Hailey disease can occur anywhere on the skin, but it is more frequently seen in the body folds such as the groin and armpits and neck.
Gianotti-Crosti syndrome Detailed Information
Posted on September 22, 2008 - Filed Under Uncategorized | Leave a Comment
Gianotti-Crosti syndrome (GCS) is a different contagious exanthem with related lymphadenopathy and acute anicteric hepatitis.
Gianotti-Crosti Syndrome is a rare skin disease affecting children between the ages of nine months and nine years. More than 90% of patients are younger than 4 years. In children, males and females are similarly affected. Main symptoms may comprise blisters on the skin of the legs, buttocks and arms. The disorder is usually preceded by a viral infection. The specific viruses causing Gianotti-Crosti syndrome include hepatitis b infection, Epstein Barr virus, enter virus infections, echo viruses and respiratory syncytial virus.
Hemolytic-Uremic Syndrome
Posted on September 19, 2008 - Filed Under Uncategorized | Leave a Comment
Symptoms of Hemolytic-Uremic Syndrome usually become apparent three to 10 days after the development of gastroenteritis and may include sudden paleness (pallor), irritability and weakness.
Hemolytic Uremic Syndrome (HUS) is a serious disease that affects the kidneys and blood clotting system. Hemolytic-uremic syndrome is characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. It is a rare disease but is more common in children, especially those less than five years of age, than in adults. In most cases, HUS is caused by infection with the bacteria E. coli O157:H7.
Complete Information on Banti’s syndrome
Posted on June 4, 2008 - Filed Under Health | Leave a Comment
Banti’s Syndrome, also known as Banti’s disease, is an illness characterized by an enlargement of the spleen with anemia. These terms were actually used more in the past then they are today.
Banti’s Syndrome actually covers a variety of disorders. Korovnokov’s syndrome, a special form of Banti’s disease characterised by splenomegaly with subthrombocytosis and gastrointestinal hemorrhage. Banti’s syndrome is a chronic congestive enlargement of the spleen resulting in premature destruction of the red blood cells by the spleen. It is most frequently in females under 35 years of age, and affects either sex.
