William syndrome: Alternate names- Beuren syndrome, Erin
Fancies syndrome and infantile hyperglycemia. Unknown, disorder was discovered by Williams and Beuren in 1961.
Genetics home reference
Type of genetic disorder (included explanation of the type and how it is inherited)
Developmental disorder that affects many parts of the body. People with Williams syndrome inherit the chromosomal deletion from a parent within the condition.
Genetics home reference
Chromosome genetics graphic .
Source: Google Images
William syndrome chromosome
Symptoms of the disorder (list and explain).
-Facial features like a wide mouth, small upturned nose, widely spaced teeth, and full lips
-Colic of feeding problems
- ADD ( attention deficit disorder)
- learning disorder
-varying degrees of intellectual disability
-low birth weight and muscle tone
Effects of disorder (explain all effects).
- Effects family- Family suffers
-Learning- harder for them to learn, difficulty getting or staying on task.
-Effects speaking- speech delays.
-ongoing medical care and early interventions (such as speech or occupational therapy) that may not be covered by insurance or state funding.
-As they grow, they struggle with things like spatial relations, numbers, and abstract reasoning, which can make daily tasks a challenge.
Diagnosis (explain how the disorder is diagnosed and explain specific tests that are done).
The fish test- Specialized chromosome analysis utilizing specially prepared elastin probes.
The microarray- A chromosomal microarray is a new diagnostic tool which uses million of markers to determine if their are missing pieces or extra pieces of DNA anywhere in the persons chromosomes.
Prognosis (life expectancy, limitations, impacts on the person with the disorder and their family, etc.)
-Heart and blood vessel issues
- learning disability
- cardiac issues
- normal life expectancy
- very rare condition
Treatments (explain prevention, medications available, gene therapy)
There is no actual treatment, but it's based on the persons symptoms. Physical therapy and speech therapy would help. Must avoid lots of calcium and vitamin D because blood levels are too high.
Current research (find and describe one facility that is researching the disorder)
William syndrome association is a facility that is researching William syndrome and it's a popular research field because of its unique characteristics.