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Living with Isolated congenital breast hypoplasia/aplasia

A rare condition present from birth in which the breast, nipple, or breast tissue is missing or underdeveloped.

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Understanding Isolated congenital breast hypoplasia/aplasia

Isolated congenital breast hypoplasia/aplasia is a rare breast difference in which breast tissue or the nipple is missing or underdeveloped from birth.

It can mean no breast and nipple (amastia), or a missing nipple (athelia) or mammary gland (amazia). It can affect one or both sides. It may occur alone or with a syndrome or other differences. This body area involves the urinary and reproductive systems.

Signs & symptoms

GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:

  • Missing breast and nipple (amastia)
  • Missing nipple (athelia)
  • Missing mammary gland (amazia)

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include genetic specialists, maternal-fetal medicine specialists and women’s reproductive health specialists.

  3. Consider genetic testing

    Changes in PTPRF are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.

Care & treatment

Care team
Genetic specialists (geneticists); Maternal-fetal medicine specialists (pregnancy-related); Women’s reproductive health specialists (obstetricians / gynecologists)
Expert care
Ask about multidisciplinary care centers for rare conditions
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with rare disease patient organizations for support
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
Can genetic testing for the PTPRF gene confirm the diagnosis?
Do I need to be checked for other conditions that can occur with this?
Which specialists can talk about options and support?

Quick facts

InheritanceAutosomal Recessive
GenesPTPRF

Changes in the PTPRF gene are listed. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.

GeneticUrinary and Reproductive

Also known as: amazia; aplasia or hypoplasia of breasts and/or nipples; breasts and/or nipples, aplasia or hypoplasia of; congenital absence of breast with absent nipple; isolated congenital amastia

Patient organizations

Rare-disease groups that can help

Source: NIH GARD · Isolated congenital breast hypoplasia/aplasiaGARD ID 9489 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

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Explore research for Isolated congenital breast hypoplasia/aplasia

Explore actively recruiting Isolated congenital breast hypoplasia/aplasia studies with HealthSpark.

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