Find information on thousands of medical conditions and prescription drugs.

Williams syndrome

Williams syndrome (Williams-Beuren syndrome) is a rare genetic disorder, occurring in fewer than 1 in every 20,000 live births. more...

Home
Diseases
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
Panniculitis
Waardenburg syndrome
Wagner's disease
WAGR syndrome
Waldenstrom...
Wallerian degeneration
Warkany syndrome
Warts
Waterhouse-Friderichsen...
Watermelon stomach
Wegener's granulomatosis
Weissenbacher Zweymuller...
Werdnig-Hoffmann disease
Werner's syndrome
Whipple disease
Whooping cough
Willebrand disease
Willebrand disease, acquired
Williams syndrome
Wilms tumor-aniridia...
Wilms' tumor
Wilson's disease
Wiskott-Aldrich syndrome
Wolf-Hirschhorn syndrome
Wolff-Parkinson-White...
Wolfram syndrome
Wolman disease
Wooly hair syndrome
Worster-Drought syndrome
Writer's cramp
X
Y
Z
Medicines

Symptoms

It is characterized by a distinctive, "elfin" facial appearance, an unusually cheerful demeanor, ease with strangers, mental retardation coupled with an unusual facility with language, a love for music, cardiovascular problems such as supravalvular aortic stenosis, and hypercalcemia. Williams shares some features with autism, although persons with Williams syndrome generally possess very good social skills, to the point that this condition is sometimes called "cocktail party syndrome".

Another symptom of Williams syndrome is lack of depth perception and inability to visualize how different parts assemble into larger objects (for example: assembling a jigsaw puzzle). This problem is caused by a slight defect in the brain that creates a sparsity of tissue in the visual systems of the brain. A team of researchers at the National Institute of Mental Health used functional magnetic resonance imaging (fMRI) to watch the blood flow of the brains of test subjects while they were performing two tasks involving spatial relations. Persons with Williams syndrome showed weaker activity in the section of the brain associated with spatial relations. Scans of brain anatomy of test subjects with Williams indicated a deficit of brain tissue in an area of the same section of the brain mentioned above. This deficit partially blocks transmission of visual information to the spatial relations region of the brain. In the test, all participants of the study measured in the average intelligence range to remove the possibility that the retardation aspect of Williams syndrome may have had an effect on the visual systems of the tested individuals.

Causes

Williams syndrome is caused by the deletion of genetic material from a specific region of chromosome 7. The deleted region includes more than 20 genes, and researchers believe that the loss of several of these genes probably contributes to the characteristic features of this disorder. CYLN2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that loss of the ELN gene, which codes for the protein elastin, is associated with the connective tissue abnormalities and cardiovascular disease (specifically SVAS) found in many people with this disease. Studies suggest that deletion of LIMK1, GTF2I, GTF2IRD1, and perhaps other genes may help explain the characteristic difficulties with visual-spatial tasks. Additionally, there is evidence that the loss of several of these genes, including CYLN2, may contribute to the unique behavioral characteristics, mental retardation, and other cognitive difficulties seen in Williams syndrome.

Read more at Wikipedia.org


[List your site here Free!]


Acetabular Rim Syndrome in Young Adults: A Major Cause of Osteoarthritis of the Hip
From Dynamic Chiropractic, 8/14/05 by Hammer, Warren

Soft Tissue

Dysplasia means abnormal tissue development,1 and acetabular dysplasia is a major precursor of osteoarthritis of the hip.2 Acetabular dysplasia causes secondary osteoarthritis in 25 percent to 50 percent of patients by the age of 50 years. It is important to know that acetabular dysplasia could present as a distinct clinical entity before the onset of osteoarthritis (OA), and recognizing what is sometimes called "acetabular rim syndrome"3 before the development of this disease may be crucial.

Young adults are defined as between 18 to 35 years of age;4 their hip pain is often nonspecific regarding symptoms. Radiological findings may be negative. It is important to rule out early any possibility of fractures, infections, inflammation or ischemic necrosis; laboratory tests of blood, urine and at times synovial fluid may be necessary.

It is also necessary to know that patients with dysplastic acetabular rim syndrome (ARS) present with unique findings on history and physical examination. Early symptoms will occur due to overload of the acetabular rim caused by hip motions such as a combination of flexion, adduction and internal rotation. Getting out of a car or doing the breast stroke are examples of this type of movement stress.2 Snapping, locking and clicking are common in ARS, causing the clinician to think of problems related to the labrum or a painless snapping iliopsoas.

Garbuz, et al.,2 state that any patient with a snapping iliopsoas should be X-rayed to rule out ARS. Symptoms due to hip instability may be related to ARS. The patient may suffer unexplained falls or the feeling that his or her hip may give way. With acetabular dysplasia, there may be excessive anteversion of the femoral neck, causing an increase in hip internal rotation on examination. The capsular pattern of the hip that indicates osteoarthritis is almost always a decrease in hip internal rotation. Therefore, as soon as osteoarthritis appears, decreased hip internal rotation will also appear.

Two important functional tests that may indicate hip dysplasia are the impingement and apprehension hip tests. For the impingement test, the patient is supine; the clinician flexes and internally rotates the patient's hip to 90 degrees, and then adducts. This movement brings the anterior femoral neck in contact with the anterior rim of the acetabulum, which is the common site of the acetabular dysplasia. This test will reproduce the typical groin pain that may be present with this condition. For the apprehension test, the supine patient lies with his/her hip extended, which the clinician externally rotates. This test shows anterior hip instability causing a feeling of discomfort and instability in the patient.

Plain radiographs of the hip are still the gold standard for initial evaluation of a dysplastic hip. The authors2 recommend a pelvic view taken in the standing position, a false profile view,5 and a functional view in abduction of the affected hip. MRI is not the image of choice for the dysplastic hip.

If necessary, medical treatment for ARS is a rotational pelvic osteotomy, which has been shown to improve symptoms and "has the potential to delay the onset of OA."2

The American College of Rheumatology6 states that the diagnosis of OA is the cause of hip pain when two of the following three criteria are present: 1. an ESR less than 20 mm/hour; 2. radiographic evidence of femoral or acetabular osteophytes; or 3. narrowing of the joint space. These criteria are 89 percent sensitive and 91 percent specific.

Conservative treatment, consisting of flexibility stretching and strengthening of the pelvic and lower extremity muscles, should be attempted. Mulligan technique using mobilization with movement with a treatment belt can be effective.7

This article is available online at www.chiroweb.com/columnist/ hammer. You may also leave a comment or ask a question at his "Talk Back" forum at the same location.

References

1. Stedman's Medical Dictionary, 27th edition. Philadelphia, Lippincott Williams & Wilkins;2000:554.

2. Garbuz DS, Masri BA, Haddad F, Duncan DP. Clinical and radiographic assessment of the young adult with symptomatic hip dysplasia. Clin Orthop 2004;418:18-22.

3. Klaue K, Durnin CW, Ganz R. The acetabular rim syndrome. J Bone Joint Surg 1991;73B:423-429.

4. Troum OM, Crues JV. The young adult with hip pain: diagnosis and medical treatment, circa 2004. Clin Orthop 2004;418:9-17.

5. Lequesne M, de Seze S. Le faux profile du basin: nouvelle incidence radiographique pour lietude de la hanche: son utilite dans les dysplasies et les differentes coxopathies. Rev Rhum Mal Osteoartic 1961;28:643-644.

6. American College of Rheumatology Subcommittee on Osteoarthritis Guidelines. Recommendations for the medical management of osteoarthritis of the hip and knee. Arthritis Rheum 2000;43:1905-1915.

7. Mulligan BR. Manual Therapy "Nags,""Snags," "MWMS," etc., 4th edition. Welington, NZ, Plane View Services Ltd., 1999.

Warren Hammer, MS, DC, DABCO. Previous articles, a "Talk Back" forum and a brief biography of the author are available online at www. chiroweb.com/columnist/hammer.

Warren Hammer, MS, DC, DABCO

Norwalk, Connecticut

softissu@optonline.net

www.warrenhammer.com

Copyright Dynamic Chiropractic Aug 14, 2005
Provided by ProQuest Information and Learning Company. All rights Reserved

Return to Williams syndrome
Home Contact Resources Exchange Links ebay