Familial osteodysplasia, Anderson type | |
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Specialty | Medical genetics |
Types | It is a type of osteodysplasia, and it doesn't have any subtypes itself. |
Prevention | None |
Prognosis | Good |
Frequency | very rare, only 6 cases have been reported in medical literature. |
Familial osteodysplasia, Anderson type is a rare genetic disorder which is characterized by cranio-facial dysmorphisms and multiple skeletal anomalies. Hyperuricemia, hypertension and high erythrocyte sedimentation rates have also been reported. [1] Approximately 6 cases have been reported in medical literature. [2] This disorder is thought to be inherited in an autosomal recessive manner. [3]
People with this disorder often show the following symptoms: [4]
Additional symptoms include hyperuricemia, high erythrocyte sedimentation rates and hypertension.
This condition was first discovered in 1972 by L G Anderson et al. and J S Buchignani et al. described the case of 5 siblings and their dad, 4 out of the 5 siblings had recurrent mandibular fractures and cranio-facial dysmorphisms, such as prominent earlobes. These 4 siblings also had hyperuricemia and 3 out of those 4 siblings had hypertension. Their father had hyperuricemia and hypertension but was otherwise unaffected. The siblings were the result of consanguineous Irish parents. [5] [6]
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Hemolysis or haemolysis, also known by several other names, is the rupturing (lysis) of red blood cells (erythrocytes) and the release of their contents (cytoplasm) into surrounding fluid. Hemolysis may occur in vivo or in vitro.
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Hyperuricaemia or hyperuricemia is an abnormally high level of uric acid in the blood. In the pH conditions of body fluid, uric acid exists largely as urate, the ion form. Serum uric acid concentrations greater than 6 mg/dL for females, 7 mg/dL for men, and 5.5 mg/dL for youth are defined as hyperuricemia. The amount of urate in the body depends on the balance between the amount of purines eaten in food, the amount of urate synthesised within the body, and the amount of urate that is excreted in urine or through the gastrointestinal tract. Hyperuricemia may be the result of increased production of uric acid, decreased excretion of uric acid, or both increased production and reduced excretion.
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Polycythemia is a disease state in which the hematocrit and/or hemoglobin concentration are elevated in peripheral blood.
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Hyperlipidemia is abnormally elevated levels of any or all lipids or lipoproteins in the blood. The term hyperlipidemia refers to the laboratory finding itself and is also used as an umbrella term covering any of various acquired or genetic disorders that result in that finding. Hyperlipidemia represents a subset of dyslipidemia and a superset of hypercholesterolemia. Hyperlipidemia is usually chronic and requires ongoing medication to control blood lipid levels.
Freeman–Sheldon syndrome (FSS) is a very rare form of multiple congenital contracture (MCC) syndromes (arthrogryposes) and is the most severe form of distal arthrogryposis (DA). It was originally described by Ernest Arthur Freeman and Joseph Harold Sheldon in 1938.
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