Thanatophoric Dysplasia

What are the signs and symptoms of thanatophoric dysplasia?

Babies with either type of thanatophoric dysplasia often have:

• Differences in how parts of the brain develop
• Extra folds of skin on the arms and legs
• Narrow chest and ribcage
• Pressure on the spinal cord at the base of the skull
• Underdeveloped lungs
• Very short arms and legs (short stature)
• Wide-spaced eyes

Seizures are also common in babies with either type of thanatophoric dysplasia. This can happen because of pressure on the spinal cord in the neck or differences in brain development.

Babies with type 1 thanatophoric dysplasia may also have:

• Eyes that stand out more than usual
• Flat nose
• Flat spine bones
• Prominent forehead
• Unusually large head

Babies with type 2 thanatophoric dysplasia may have:

• Bowed legs
• Cloverleaf skull, a severe type of craniosynostosis
• Extremely short fingers and toes
• Small pelvis

How do we diagnose thanatophoric dysplasia?

Doctors may see signs of thanatophoric dysplasia, such as extremely short limbs, on a prenatal ultrasound. Our fetal genetic counselors can help you decide if more prenatal tests are right for you, such as:

• Amniocentesis: Usually performed after the first trimester, this test can also detect changes in the FGFR3 gene. A doctor inserts a thin needle through the pregnant parent’s belly into the uterus to remove a small sample of amniotic fluid (the protective liquid surrounding the baby). This fluid contains skin cells from the baby that we can use in genetic testing.
• Chorionic villus sampling (CVS): Usually done in the first trimester, this procedure tests cells from the placenta for the FGFR3 gene change. A doctor takes a small sample of tissue from the placenta (the organ inside the uterus that nourishes the baby). We may take the sample with a needle inserted through pregnant parent’s belly or a thin tube through their vagina and cervix.
• Fetal echocardiogram: An ultrasound to look at the baby’s heart before birth.
• Fetal MRI: A scan that uses magnet technology to give more precise images of the baby.

Sometimes doctors diagnose thanatophoric dysplasia after birth based on:

• Genetic testing
• Signs and symptoms during a physical exam
• X-rays to look for specific bone differences

How do we treat thanatophoric dysplasia?

Treatment depends on your baby’s symptoms and the type of thanatophoric dysplasia they have. Sometimes, we help your baby with specific symptoms. Other times, our care focuses on providing comfort.

Our neonatal palliative care specialists relieve pain, provide support, and keep you and your baby as comfortable as possible. You may meet with the palliative care team before delivery to help decide what additional treatment may be appropriate.

Babies with thanatophoric dysplasia often need a ventilator or other treatment to help with breathing. Some babies with thanatophoric dysplasia may get additional care, such as:

• Feeding tube
• Physical, occupational or speech therapy
• Surgery to relieve spinal cord compression in the neck

Why choose us to treat thanatophoric dysplasia?

We deliver expert care and compassion for everything you and your baby need, before and after birth. From your very first appointment, you’ll have access to:

• Specialists with a thorough understanding of this rare disorder. As the first comprehensive Skeletal Dysplasia Program in the Rocky Mountain region, we have an unmatched level of expertise in this condition. We’re a Rare Disease Center of Excellence with the highest level of expertise to treat thanatophoric dysplasia.
• Prenatal counseling and ongoing mental health support at our Colorado Fetal Care Center. We have specialized mental health experts with training and experience in the unique challenges of high-risk pregnancy and care for newborns with medical complications.
• Expert care from our nationally recognized Neonatal Intensive Care Unit (NICU) and Breathing Institute. Ranked by U.S. News & World Report as the top program in the region, our NICU treats more babies than almost any in the nation. And our Breathing Institute, the largest program in the region, is ranked #4 in the nation.
• Comfort care through our Neonatal Palliative Care Program. We support your family with an individualized treatment plan and a specialized suite where you and your baby can spend quality time together in a home-like environment.

• Abby Care helps eligible families become paid caregivers through training and support for Medicaid-funded in-home care.
• Little People of America offers support, education, community connections and resources for people of short stature and their families.
• NICU family resources include mental health and social support, temporary housing assistance, education and sibling support.
• The Courageous Parents Network offers educational resources, videos, webinars and virtual support for families caring for a child with a serious medical condition.
• The Genetic and Rare Diseases Information Center offers more information about thanatophoric dysplasia, including information about clinical trials.