Williams Syndrome Disease

DESCRIPTION

Williams syndrome is an unusual multisystem neurodevelopmental disorder typified by characteristic craniofacial features, mild microcephaly, mild to moderate mental retardation with a distinctive cognitive-behavioral profile, connective tissue abnormalities, growth retardation, supravalvular aortic stenosis, peripheral pulmonary stenosis, renal artery stenosis, limited joint movement and transient hypercalcemia. Its occurrence is sporadic, although familial autosomal dominant cases have been infrequently reported.

System(s) affected: Musculoskeletal, Nervous, Renal/Urologic, Cardiovascular, Endocrine/Metabolic
Genetics: The pattern of occurrence is nearly always sporadic and observed in both sexes, although there are several reported cases of familial transmission as an autosomal dominant mutation. The phenotypic expression is somewhat varied and associated with a hemizygous microdeletion of 114-250 kb in the 7q11.23 region which includes the elastin (ELN) and LIM-kinase (LIMK) gene.
Incidence/Prevalence in USA: Affected individuals have been estimated at 1:20,000 live births
Predominant age: Life-long condition
Predominant sex: Male=Females

SIGNS AND SYMPTOMS

The signs and symptoms observed in the classic case of WS may be diagnostic but the clinical presentation is somewhat varied
Early childhood: Global developmental delay albeit with seemingly normal speech and expressive language
- Hyperacusis
- Characteristic craniofacial features
  - Elfin-like facial appearance
  - Medial eyebrow flare and stellate irises
  - Wide mouth
  - Long flat philtrum
  - Upturned nose with a flat nasal bridge
  - Dental anomalies
  - Mild microcephaly
- Characteristic clinical features
  - Supravalvar aortic stenosis
  - Peripheral pulmonary stenosis
  - Renal artery stenosis
  - Infantile hypercalcemia
  - Growth retardation and short stature
  - Slender limbs and trunk
- Characteristic cognitive/behavioral features
  - Weakness in abstract/visual reasoning
  - Highly developed expressive language skills
  - Low levels of daily living skills
Postpubertal males and females
- Characteristic clinical features
  - Hypertension
  - Lordosis and/or limited joint movement
- Characteristic behavioral features
  - Anxiety
  - Depression and suicidal ideation

CAUSES

Microdeletion in the 7q11.23 region

RISK FACTORS

Possible familial transmission as an autosomal dominant mutation

LABORATORY

Molecular-genetic (DNA) evaluation is the diagnostic test of choice and can determine the size of the deletion
Drugs that may alter lab results: N/A
Disorders that may alter lab results: N/A

PATHOLOGICAL FINDINGS

N/A

SPECIAL TESTS

Affected individuals require cognitive, behavioral, psychological and educational evaluations to develop individual education programs

IMAGING

N/A

DIAGNOSTIC PROCEDURES

N/A

APPROPRIATE HEALTH CARE

Affected individuals will generally need life-long adult supervision. Early intensive educational intervention and behavior modification should be implemented.

GENERAL MEASURES

Early detection will permit early intervention and intensive behavioral training
Treatment for hypercalcemia by controlling dietary intake of calcium and vitamin D
Ophthalmological evaluations are recommended for visual acuity
Preventive dentistry to reduce risk of malocclusion
Continual monitoring of cardiovascular anomalies and for hypertension
Filtered ear protection for hyperacusis

SURGICAL MEASURES

Treatment for aortic, pulmonary or renal artery stenoses if needed

ACTIVITY

Full activity unless cardiovascular stenoses are problematic

DIET

For hypercalcemia, control intake of calcium and vitamin D

PATIENT EDUCATION

The patient and family should receive genetic evaluation and counseling
Patient and family should contact the WSA Office, Box 297, Clawson, MI 48017, (248) 541-3630, or e-mail tmonkaba@aol.com

PREVENTION/AVOIDANCE

Genetic counseling and evaluation, especially among high-functioning patients, about pregnancies. Prenatal diagnosis is available.

POSSIBLE COMPLICATIONS

Learning problems, especially in abstract/visual reasoning
Behavioral problems concerning indifference to personal safety
Post-pubescent anxiety and depression
Risk of cardiovascular disease and/or renal dysfunction

EXPECTED COURSE AND PROGNOSIS

Individuals may need life-long supervision
Life span may be affected by renal dysfunction; or, hypertension resulting from supravalvar stenosis and/or peripheral pulmonary stenosis

ASSOCIATED CONDITIONS

Developmental delay
Growth retardation
Cardiovascular dysfunction
Renal dysfunction
Attention deficit disorder (ADD)
- Frequently associated with neuropsychological dysfunction
- Treatment for ADD is similar to methods used in the general population

AGE-RELATED FACTORS

Pediatric: Infantile hypercalcemia
Geriatric: N/A
Others: N/A

PREGNANCY

Patient and family should receive genetic evaluation and counseling as prenatal diagnosis is available

OTHER NOTES

N/A

ABBREVIATIONS

ADD = attention deficit disorder

Clinical Investigations

ROLE OF HOMOEOPATHY

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