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Jackson-Weiss Syndrome
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/jackson-weiss-syndrome

Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis).

genetic conditions

1. Introduction

This early fusion prevents the skull from growing normally and affects the shape of the head and face.

Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to a misshapen skull, widely spaced eyes, and a bulging forehead.

Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. The first (big) toes are short and wide, and they bend away from the other toes. Additionally, the bones of some toes may be fused together (syndactyly) or abnormally shaped. The hands are almost always normal.

Some individuals with Jackson-Weiss syndrome have hearing impairment. People with Jackson-Weiss syndrome usually have normal intelligence and a normal life span.

2. Frequency

Jackson-Weiss syndrome is a rare genetic disorder; its incidence is unknown.

3. Causes

Mutations in the FGFR2 gene cause Jackson-Weiss syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene overstimulates signaling by the FGFR2 protein, which promotes the premature fusion of skull bones and affects the development of bones in the feet.

3.1. The gene associated with Jackson-Weiss syndrome

  • FGFR2

4. Inheritance

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

5. Other Names for This Condition

  • JWS

References

  1. Agochukwu NB, Solomon BD, Muenke M. Hearing loss in syndromiccraniosynostoses: otologic manifestations and clinical findings. Int J PediatrOtorhinolaryngol. 2014 Dec;78(12):2037-47. doi: 10.1016/j.ijporl.2014.09.019.
  2. Chen L, Deng CX. Roles of FGF signaling in skeletal development and humangenetic diseases. Front Biosci. 2005 May 1;10:1961-76. Review.
  3. Cohen MM Jr. Jackson-Weiss syndrome. Am J Med Genet. 2001 May 15;100(4):325-9.
  4. Heike C, Seto M, Hing A, Palidin A, Hu FZ, Preston RA, Ehrlich GD, Cunningham M. Century of Jackson-Weiss syndrome: further definition of clinical andradiographic findings in "lost" descendants of the original kindred. Am J MedGenet. 2001 May 15;100(4):315-24.
  5. Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR,Jackson CE, Jaye M. Jackson-Weiss and Crouzon syndromes are allelic withmutations in fibroblast growth factor receptor 2. Nat Genet. 1994 Nov;8(3):275-9.Erratum in: Nat Genet 1995 Apr;9(4):451.
  6. Wenger T, Miller D, Evans K. FGFR Craniosynostosis Syndromes Overview. 1998Oct 20 [updated 2020 Apr 30]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE,Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1455/
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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 :
Camila Xu
View Times: 655
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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