Atelosteogenesis type 1
अंतिम अद्यतन 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.
विवरण
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
टाइप 1 मधुमेह
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मधुमेह
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मधुमेह और गर्भावस्था
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दवा एलर्जी
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मधुमेह संबंधी गुर्दा रोग
मधुमेह संबंधी गुर्दा रोग है 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.
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अल्फा-1 एंटीट्रिप्सिन की कमी
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.
अधिक पठन और संदर्भ
- 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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