Atelosteogenesis type 1
עודכן לאחרונה 18 Aug 2020
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Atelosteogenesis type 1 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Characteristic facial features include a prominent forehead, wide-set eyes (hypertelorism), an upturned nose with a grooved tip, and a very small lower jaw and chin (micrognathia). Affected individuals may also have an opening in the roof of the mouth (a cleft palate). Males with this condition can have undescended testes.
תיאור
Atelosteogenesis type 1 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Characteristic facial features include a prominent forehead, wide-set eyes (hypertelorism), an upturned nose with a grooved tip, and a very small lower jaw and chin (micrognathia). Affected individuals may also have an opening in the roof of the mouth (a cleft palate). Males with this condition can have undescended testes.
Individuals with atelosteogenesis type 1 typically have an underdeveloped rib cage that affects the development and functioning of the lungs. As a result, affected individuals are usually stillborn or die shortly after birth from respiratory failure.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
AOI
Atelosteogenesis type I
Giant cell chondrodysplasia
Spondylohumerofemoral hypoplasia
Related patient information and medicines
Patient information leaflet
סוכרת סוג 1
Type 1 diabetes is the type of diabetes that typically develops in children and in young adults. In type 1 diabetes the body stops making insulin and the blood sugar (glucose) leve... The above symptoms tend to develop quite quickly, over a few days or weeks. However, without treatment , the blood sugar (glucose) level becomes very high and acids.
Patient information leaflet
סוכרת
There are two main types of diabetes - סוכרת סוג 1 and type 2 סוכרת. Type 1 usually first develops in children or in young adults. Causes of type 1 diabetes Type 1 diabetes is thought to be an auto-immune condition where the body's immune system attacks and destroys the cells in the pancreas which produce insulin. Ketoacidosis For people.
Patient information leaflet
סוכרת והריון
Diabetes mellitus (just called diabetes from no... There are two main types of diabetes. These are type 1 diabetes (this usually starts in childhood or adolescence and requires insulin treatment from the start) and type 2 diabetes (this usually starts in adulthood and often can be managed with diet or tablets). For further information about.
Patient information leaflet
אלרגיה לתרופות
Medicines can cause allergic reactions. In this leaflet these reactions are called 'drug allergies'. In this instance the drugs referred to are medicines people take for their health. This can be prescribed medicines, or those bought over the counter. The mechanism of action is either through a Type 1 IgE-mediated (a type of immunoglobulin).
Patient information leaflet
מחלת כליות סוכרתית
מחלת כליות סוכרתית מטופל? a complication that occurs in some people with diabetes. Diabetic kidney disease (diabetic nephropathy) is a complication that occurs in some people with diabetes. For people with type 1 diabetes Roughly 1 in 10 people with diabetes have type 1 diabetes... Type 1 diabetes is an autoimmune condition where the body's.
Patient information leaflet
חסר באלפא-1 אנטיטריפסין
A genetic condition is one that can be passed on from parents through genes. In alpha-1 antitrypsin deficiency the result of a genetic abnormality leads to lung and, in some people, liver damage. Alpha-1 antitrypsin (A1AT) is a protein made by cells in the liver. Its main function is to protect the lungs from damage caused by other types of.
קריאה נוספת והפניות
- Atelosteogenesis type 1; MedlinePlus, National Library of Medicine.
- Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D. Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat. 2006 Jul;27(7):705-10. doi: 10.1002/humu.20348.
- Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr;36(4):405-10. doi: 10.1038/ng1319. Epub 2004 Feb 29.
- Sawyer GM, Clark AR, Robertson SP, Sutherland-Smith AJ. Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains. J Mol Biol. 2009 Jul 31;390(5):1030-47. doi: 10.1016/j.jmb.2009.06.009. Epub 2009 Jun 6.
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