| Eiken syndrome | |
|---|---|
 | |
| This condition is inherited in an autosomal recessive manner |
Eiken syndrome, also known as "Eiken skeletal dysplasia", is a rare[1] autosomal bone dysplasia with a skeletal phenotype which has been described in a unique consanguineous family, where it segregates as a recessive trait.[2][3] First described in 1985, the syndrome primarily affects the development of bones, leading to short stature, long limbs, and joint dislocations. Eiken syndrome is caused by mutations in the PTH1R gene, located on chromosome 3, and is involved in skeletal development.[4][5]
- ^ Hoogendam, Jakomijn; Farih-Sips, Hetty; C. Wynaendts, Liliane; W.G.M Löwik, Clemens; M. Wit, Jan; Karperien, Marcel. "Novel mutations in the PTHR1 causing Blomstrand Osteochondrodysplasia type I and II" (PDF). Blomstrand Osteochondrodysplasia: 38.
- ^ Eiken, M., Prag, J., Petersen, K. and Kaufmann, H. (1984) A new familialskeletal dysplasia with severely retarded ossification and abnormal modeling of bones especially of the epiphyses, the hands, and feet. Eur. J. Pediatr., 141, 231–235.
- ^ "The Many Faces of PTHR1 Mutations". Growth, Genetics & Hormones. 21 (2). June 2005.
- ^ "Eiken syndrome (Concept Id: C1838779) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-12-13.
- ^ Portales-Castillo, Ignacio; Dean, Thomas; Cheloha, Ross W.; Creemer, Brendan A.; Vilardaga, Jean-Pierre; Savransky, Sofya; Khatri, Ashok; Jüppner, Harald; Gardella, Thomas J. (2023-06-02). "Altered Signaling and Desensitization Responses in PTH1R Mutants Associated with Eiken Syndrome". Communications Biology. 6 (1): 599. doi:10.1038/s42003-023-04966-0. ISSN 2399-3642. PMC 10238420. PMID 37268817.