During fetal development, the outer ear or "pinna" forms at a time when many other critical organs are developing (such as the kidneys). Abnormalities in the shape or positioning of the pinna may be an indication that there are other associated abnormalities present.

Common abnormalities include abnormal folds in the pinna, prominence of the ears, low-set positioning, abnormal rotation of the pinna, and even absence of the pinna.

Many children are born with ears that stick out (protruding ears). Although people may comment on the ear shape, this condition is a variation of normal and is not associated with other disorders. However, low-set ears, absent pinna, and abnormal folds may be associated with various medical conditions.

The following conditions include both low-set and malformed ears:

Common conditions:

• Down syndrome
• Turner syndrome

Rare conditions:

• Treacher Collins syndrome
• Potter syndrome
• trisomy 18
• Beckwith-Wiedemann syndrome
• trisomy 13
• Rubinstein-Taybi syndrome
• Smith-Lemli-Opitz syndrome

• you notice abnormally shaped or positioned ears.

Note: This condition is usually found during the first well baby exam.

The medical history will be obtained and a physical examination performed.

Medical history questions documenting your symptom in detail may include:

• What is the abnormality (low set, unusual position, etc.)?
• Were any other abnormalities also present?
• Is there any family history of having abnormal-shaped ears?
• Is there a family history of any of the disorders associated with pinna abnormalities and low set ears?

PHYSICAL EXAMINATION
To determine if the pinna is in fact abnormal, the doctor will conduct a series of measurements with a tape measure. Other parts of the body will also be measured including the eyes, hands, and feet to determine if other abnormalities are present.

If the pinna are abnormal, a hearing test will usually be recommended. Examination for any mental development changes may be performed as the child grows. Diagnostic tests that may be performed include a chromosome analysis.

INTERVENTION
No treatment is needed for pinna abnormalities, as they do not affect the hearing. However, sometimes cosmetic surgery is recommended.

AFTER SEEING YOUR HEALTH CARE PROVIDER
You may want to add a diagnosis related to pinna abnormalities or low-set ears to your personal medical record.