Beuren syndrome

- Short stature relative to family.
- Developmental delay.
- Initially delayed speech development may turn into relative loquacious speech later and relatively strong learning by hearing.
- Distractibility.
- learning disorders.
- blood vessel narrowing including: supravalvular aortic stenosis, pulmonic stenosis and pulmonary artery stenosis.
- Pectus excavatum (concavity of the chest).
- Clinodactyly (an inward bend of the small finger).
- Blood vessel narrowing including supravalvular aortic stenosis, pulmonary stenosis, and pulmonary artery stenosis.
- High blood calcium level (hypercalcemia) that may cause seizures and rigid muscles.
- Farsightedness.
- High blood pressure.
- Slack joints that may change to stiffness as patient gets older.
- Unusual pattern ("stellate" or star-like) in iris of the eye.
- Blood pressure check.
- Echocardiography combined with Doppler ultrasound.
- Kidney ultrasound.
- There is no known way to prevent the genetic problem that causes Williams syndrome. Prenatal testing is available for couples with a family history of Williams syndrome who wish to conceive.

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