| Lowry-Wood syndrome | |
|---|---|
| Other names | LWS |
 | |
| Specialty | Medical genetics |
| Prevention | none |
| Frequency | very rare, only 10 cases reported |
Lowry-Wood syndrome, also simply known as LWS, is a very rare genetic disorder which is characterized by dysplasia of the epiphysis, low height/short stature, microcephaly, developmental delay, intellectual disabilities, and congenital nystagmus. Less common (but not rare) features include coxa vara and retinitis pigmentosa. Only 10 cases of this disorder have been described in medical literature. [1] [2] [3] [4] [5] This disorder is associated with mutations in the RNU4ATAC gene, on chromosome 2q14.2 [6] [7]
References
-
^ RESERVED, INSERM US14-- ALL RIGHTS.
"Orphanet: Lowry Wood syndrome". www.orpha.net. Retrieved 2022-05-15.
{{ cite web}}: CS1 maint: numeric names: authors list ( link) - ^ "OMIM Entry - # 226960 - LOWRY-WOOD SYNDROME; LWS". www.omim.org. Retrieved 2022-05-15.
- ^ Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006), "Lowry-Wood Syndrome", Syndromes: Rapid Recognition and Perioperative Implications, New York, NY: The McGraw-Hill Companies, retrieved 2022-05-15
- ^ "Lowry Wood syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-15.
- ^ "Lowry-Wood syndrome (Concept Id: C0796021) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-15.
- ^ Shelihan, Ivan; Ehresmann, Sophie; Magnani, Cinzia; Forzano, Francesca; Baldo, Chiara; Brunetti-Pierri, Nicola; Campeau, Philippe M. (December 2018). "Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype". Human Genetics. 137 (11–12): 905–909. doi: 10.1007/s00439-018-1950-8. ISSN 1432-1203. PMID 30368667. S2CID 53079178.
- ^ Farach, Laura S.; Little, Mary E.; Duker, Angela L.; Logan, Clare V.; Jackson, Andrew; Hecht, Jaqueline T.; Bober, Michael (February 2018). "The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome". American Journal of Medical Genetics Part A. 176 (2): 465–469. doi: 10.1002/ajmg.a.38581. ISSN 1552-4825. PMC 6774248. PMID 29265708.
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
| Lowry-Wood syndrome | |
|---|---|
| Other names | LWS |
|
| |
| Specialty | Medical genetics |
| Prevention | none |
| Frequency | very rare, only 10 cases reported |
Lowry-Wood syndrome, also simply known as LWS, is a very rare genetic disorder which is characterized by dysplasia of the epiphysis, low height/short stature, microcephaly, developmental delay, intellectual disabilities, and congenital nystagmus. Less common (but not rare) features include coxa vara and retinitis pigmentosa. Only 10 cases of this disorder have been described in medical literature. [1] [2] [3] [4] [5] This disorder is associated with mutations in the RNU4ATAC gene, on chromosome 2q14.2 [6] [7]
References
-
^ RESERVED, INSERM US14-- ALL RIGHTS.
"Orphanet: Lowry Wood syndrome". www.orpha.net. Retrieved 2022-05-15.
{{ cite web}}: CS1 maint: numeric names: authors list ( link) - ^ "OMIM Entry - # 226960 - LOWRY-WOOD SYNDROME; LWS". www.omim.org. Retrieved 2022-05-15.
- ^ Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006), "Lowry-Wood Syndrome", Syndromes: Rapid Recognition and Perioperative Implications, New York, NY: The McGraw-Hill Companies, retrieved 2022-05-15
- ^ "Lowry Wood syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-15.
- ^ "Lowry-Wood syndrome (Concept Id: C0796021) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-15.
- ^ Shelihan, Ivan; Ehresmann, Sophie; Magnani, Cinzia; Forzano, Francesca; Baldo, Chiara; Brunetti-Pierri, Nicola; Campeau, Philippe M. (December 2018). "Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype". Human Genetics. 137 (11–12): 905–909. doi: 10.1007/s00439-018-1950-8. ISSN 1432-1203. PMID 30368667. S2CID 53079178.
- ^ Farach, Laura S.; Little, Mary E.; Duker, Angela L.; Logan, Clare V.; Jackson, Andrew; Hecht, Jaqueline T.; Bober, Michael (February 2018). "The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome". American Journal of Medical Genetics Part A. 176 (2): 465–469. doi: 10.1002/ajmg.a.38581. ISSN 1552-4825. PMC 6774248. PMID 29265708.
|
| This genetic disorder article is a stub. You can help Wikipedia by expanding it. |