Definition of Pinna abnormalities and low-set ears:

Pinna abnormalities and low-set ears refer to abnormalities in the shape or position of the outer ear (pinna or auricle).

Considerations:

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.

Common Causes:

The following common conditions are associated with low-set and malformed ears:

• Down syndrome
• Turner syndrome

Rare conditions associated with low-set and malformed ears include:

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