Williams syndrome (also called Williams–Beuren syndrome) is a rare genetic disorder caused by a missing piece (deletion) on chromosome 7 — specifically at 7q11.23, which includes the ELN gene (elastin gene).
CAUSE
-
Genetic cause: Deletion of about 26–28 genes on chromosome 7q11.23.
-
Not inherited: Usually happens by chance during the formation of reproductive cells (egg or sperm).
-
Diagnosis
Chromosomal microarray or FISH test to detect 7q11.23 deletion.
MBH/AB
5 Likes
Rare disorders are always rare to be remembered.
Thank you sharing this information.
1 Like
Dental anomalies in Williams syndrome include missing teeth (hypodontia), small teeth (microdontia), widely spaced teeth, malocclusion (misaligned bite), malformed or screwdriver-shaped teeth, enamel defects, and increased risk of dental caries. These features often require early dental care and monitoring
1 Like
a reminder of how genetics can shape all our traits in such unique ways. nice article
1 Like
It’s so important for us as healthcare workers to know about the different syndromes in Pediatrics; which can aid early diagnosis and getting the child the help that they need
1 Like
A tiny deletion on chromosome 7q11.23 that affects the elastin gene causes Williams syndrome, an intriguing but complicated genetic disorder. It frequently happens at random rather than through inheritance. Chromosome tests such as FISH or microarray are used in the diagnosis process, and echocardiography is used to assess the heart. For individualized support, early developmental and learning evaluations are crucial. With the right care and understanding, people with Williams syndrome can flourish socially and medically.
1 Like
Williams Syndrome: Remember these pearls:
- 7 p - (deletion of smaller arm at Chromosome 7)
- Elfin facies
- Idiopathic hypercalcemia
- Peripehral pulmonic stenosis (PPS).
#neonatology
1 Like