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Primordial Dwarfism

What Is Primordial Dwarfism?

People with primordial dwarfism have slowed growth that begins before birth and continues throughout life. Several health conditions can lead to primordial dwarfism.

What Are the Signs & Symptoms of Primordial Dwarfism?

Babies with primordial (pry-MOR-dee-ul) dwarfism are very small in the womb and at birth. When they grow up, their adult height is usually around 3 feet tall (90-100 cm).

Children with primordial dwarfism have:

  • a head that's small compared with the rest of the body
  • prominent nose and/or eyes
  • small, loose, and/or missing teeth
  • different shaped or small ears
  • fine, sparse hair
  • high-pitched voice

They may also have learning problems.

Some children have medical problems such as a curved spine, strokes, aneurysms, high blood pressure, and kidney problems. Some of these can affect how long a child lives.

What Causes Primordial Dwarfism?

Primordial dwarfism happens as part of a genetic (inherited) syndrome such as Seckel syndrome, Russell-Silver syndrome, or microcephalic primordial dwarfism type II (MOPD II). These syndromes are caused by gene mutations (changes). Sometimes the gene mutation is inherited from parents. Sometimes, neither parent had a changed gene, and the condition is due to a new (or spontaneous) genetic mutation that happened before birth.

Talking to a genetic counselor can help families understand how it can run in families.

How Is Primordial Dwarfism Diagnosed?

It is not always easy to diagnose primordial dwarfism. Many things can lead to a baby being small in the womb and at birth. Doctors might not diagnose it until a child is a few months or even a few years old. 

To diagnose primordial dwarfism, doctors ask about a child’s past health and do an exam, and might order tests such as X-rays, blood tests, and genetic tests.

How Is Primordial Dwarfism Treated?

Kids who have primordial dwarfism should get regular health checkups. This helps doctors find and treat any medical problems right away.

A team of health care specialists cares for a child with primordial dwarfism. They can include:

How Can Parents Help?

Just like other kids, those with primordial dwarfism look to their parents for encouragement and support. To help your child:

  • Treat your child according to their age, not their size, and encourage others to do the same.
  • Talk about primordial dwarfism as a difference rather than a problem. Your attitude can help your child develop good self-esteem.
  • Find ways to help your child adapt. For example, get a light switch extender and a stepstool so your child can turn the lights on and off. Encourage your child’s school to make other changes, such as lower chairs and coat hooks, and stools where needed.
  • Answer questions from others as simply as possible. If someone asks why your child is small, for example, say, “Jasmine is small because she her body just can’t grow as fast as yours.” Then, mention something special about your child. For example, “Jasmine has a lot of different interests. You should see how great she is with animals.” This shows your child that many things make them special.
  • Teach your child that being teased or bullied is not OK. If your child is teased or bullied at school, work with your child, teachers, and administrators to end it.
  • Go to all doctor visits and follow their recommendations.
  • Make changes in the home and school to help with everyday activities.

What Else Should I Know?

Children growing up with primordial dwarfism need the support of family and friends. Talk to anyone on the care team or a hospital social worker about resources that can help you and your child.

Support groups can be helpful for kids and their families. Ask the care team for recommendations. You also can find support and more information online at:

Reviewed by: Amy W. Anzilotti, MD
Date Reviewed: Oct 1, 2022

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