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Yang, C. Atelosteogenesis Type 1. Encyclopedia. Available online: https://encyclopedia.pub/entry/4834 (accessed on 26 September 2026).
Yang C. Atelosteogenesis Type 1. Encyclopedia. Available at: https://encyclopedia.pub/entry/4834. Accessed September 26, 2026.
Yang, Catherine. "Atelosteogenesis Type 1" Encyclopedia, https://encyclopedia.pub/entry/4834 (accessed September 26, 2026).
Yang, C. (2020, December 24). Atelosteogenesis Type 1. In Encyclopedia. https://encyclopedia.pub/entry/4834
Yang, Catherine. "Atelosteogenesis Type 1." Encyclopedia. Web. 24 December, 2020.
Atelosteogenesis Type 1
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/atelosteogenesis-type-1

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.

genetic conditions

References

  1. 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.
  2. 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 inthe gene encoding filamin B disrupt vertebral segmentation, joint formation andskeletogenesis. Nat Genet. 2004 Apr;36(4):405-10.
  3. Sawyer GM, Clark AR, Robertson SP, Sutherland-Smith AJ. Disease-associatedsubstitutions in the filamin B actin binding domain confer enhanced actin bindingaffinity in the absence of major structural disturbance: Insights from thecrystal structures of filamin B actin binding domains. J Mol Biol. 2009 Jul31;390(5):1030-47. doi: 10.1016/j.jmb.2009.06.009.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 1.0K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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