Noonan syndrome

Alternative names:

Turner-like syndrome

Symptoms:

• webbed neck
• sternum abnormalities (pectus excavatum, occasionally pectus carinatum)
• sagging eyelids (ptosis)
• wide-set eyes (hypertelorism)
• low-set ears
• abnormally shaped ears
• undescended testicles
• delayed puberty
• mental retardation
• short stature
• small penis

Signs and tests:

Examination may show folds of skin above the eyes (epicanthal folds). The eyes may also appear slanted (antimongoloid palpebral slant). The arms may be held at an unusual angle (cubitus valgus). There may be signs of congenital heart disease (often pulmonic stenosis, occasionally ASD).

Testing will depend on the symptoms present. For example, if there are signs of heart disease, an ECG or chest X-ray may be recommended.