Congenital Athelia

Congenital athelia is the absence of the nipple and areola on a child’s breast.

What is Congenital Athelia?

Athelia is a rare, congenital (present at birth) condition in which a child’s breast doesn’t properly develop and is missing the nipple and areola (small ring around the nipple). It can occur on one (unilateral) or both (bilateral) breasts.

What are the signs and symptoms of Congenital Athelia?

The main sign of athelia is a breast with no nipple and areola. Additional symptoms may develop if the child has a genetic condition, which will be specific to that disease.

What are the causes of Congenital Athelia?

Athelia can be caused by several genetic conditions that affect a child’s DNA and development, including:

  • Hypohidrotic ectodermal dysplasia – a genetic condition that can also impact the development or function of the hair, nails, sweat glands and teeth.
  • Poland syndrome (sequence) – a rare birth defect that causes underdevelopment or absence of the chest muscle. 
  • Yunis-Varon syndrome – a genetic condition that also affects the nervous system, skeletal system and ectodermal tissues (hair and teeth).