Watson syndrome
Overview
Watson syndrome (medical condition): A rare syndrome characterized by short stature, reduced intelligence, café au lait spots and narrowing of pulmonary valves.
Symptoms
- Café-au-lait spots
- Macrocephaly
- Broad neck
- Scoliosis
- Axillary freckles
- Mental retardation
- Learning difficulties
- Concentration difficulties
- Growth retardation
- Hearing difficulties
- Abnormal ears
Causes
While mutations in the nf1 gene have been found in families with watson syndrome, the exact cause of this condition is unknown. the condition is inherited in an autosomal dominant pattern.
Diagnosis
Review the patient’s history for seizures, frequent fractures, or mental retardation. Inspect the skin, noting the location and pattern of the spots. Look for distinctive skin lesions, such as axillary freckling, mottling, small spherical patches, and areas of depigmentation. Large lesions should be measured along the longest axis. A Wood’s light examination may help visualize lesions in pale-skinned individuals. Check for subcutaneous neurofibromas along major nerve branches, especially on the trunk. Also check for bony abnormalities, such as scoliosis or kyphosis.