Williams Syndrome
Introduction
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvular aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, mental retardation (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty).
Some Recent Findings
|
General Transcription Factor II-I Repeat Domain-containing Protein 1
GTF2IRD1 Links
- OMIM General Transcription Factor II-I Repeat Domain-containing Protein 1 (GTF2IRD1)
- Mapview GTF2IRD1
- Gene GTF2IRD1
Growth Charts
The following data is from a paper producing a growth reference for British children with Williams syndrome.[3]
Female
- Height chart for females with Williams syndrome
- Weight chart for females with Williams syndrome
- Head circumference chart for females with Williams syndrome
Male
- Height chart for males with Williams syndrome
- Weight chart for males with Williams syndrome
- Head circumference chart for males with Williams syndrome
- Links: Growth Charts
References
- ↑ <pubmed>20007321</pubmed>| PMC2836076 | J Biol Chem
- ↑ <pubmed>20642858</pubmed>| BMC Res Notes
- ↑ <pubmed>17301110</pubmed>| PMC2083767
Reviews
<pubmed>21189808</pubmed>
American Journal of Medical Genetics Part C: Seminars in Medical Genetics Special Issue: Williams Syndrome 15 May 2010
Articles
<pubmed>20425781</pubmed> <pubmed>20824207</pubmed>
Search PubMed
Search Pubmed: Williams Syndrome | GTF2IRD1
External Links
External Links Notice - The dynamic nature of the internet may mean that some of these listed links may no longer function. If the link no longer works search the web with the link text or name. Links to any external commercial sites are provided for information purposes only and should never be considered an endorsement. UNSW Embryology is provided as an educational resource with no clinical information or commercial affiliation.
- PubMed Health Williams Syndrome
- OMIM General Transcription Factor II-I Repeat Domain-containing Protein 1 (GTF2IRD1)
- Williams Syndrome Foundation UK
- Williams Syndrome International contact List
Glossary Links
- Glossary: A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | Numbers | Symbols | Term Link
Cite this page: Hill, M.A. (2024, June 17) Embryology Williams Syndrome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Williams_Syndrome
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G