Thanatophoric Dysplasia Follow-up

Updated: Feb 09, 2023
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Further Outpatient Care

Outpatient care is indicated only in cases of long-term survival.


Further Inpatient Care

Admit patients born with thanatophoric dysplasia to the NICU if survival beyond the immediate newborn period seems possible.



Transfer to a long-term care facility or to hospice palliative care may be required for those affected infants in whom survival is prolonged.



Complications can include the following:

  • Severe growth and developmental delay

  • Severe neurological impairment - Hydrocephalus, seizure disorder

  • Marked respiratory insufficiency - Ventilator dependency

  • Auditory impairment

  • Joint contractures/Joint hypermobility



Thanatophoric dysplasia is often lethal within the first few days of life. Death is due to respiratory failure caused by marked respiratory insufficiency from reduced thoracic capacity and hypoplastic lungs and/or brain stem compression.

However, survival beyond the neonatal period is possible in thanatophoric dysphoria (TD). [5, 6]  A 2020 report by Carroll et al described a boy aged 9 years with TD-I, while a 2013 article discussed a patient in her late 20s. [7, 8] A study by Ushioda et al found 20 individuals with TD-I in Japan who had survived more than 1 year (age range 1.2-27.8 years). [9]

Ushioda and colleagues reported that all of the patients in their study had severely impaired motor and cognitive development, while psychosocial development did not progress beyond 2 years. All of the individuals needed ventilator assistance, and although four patients could take nutrition by oral feeding alone, the rest required tube feeding either exclusively or in combination with oral feeding. [9]


Patient Education

Prenatally, if a fetus is diagnosed with thanatophoric dysplasia, options to discontinue or continue the pregnancy must be discussed with the parents by medical professionals.

If the pregnancy has proceeded beyond the gestational time during which a therapeutic abortion can safely be performed, discuss interventional and palliative medical approaches with the parents to enable planning for when the infant is born.

Genetic counseling can be used to discuss concerns with future family planning.

Resources for patients and caregivers are listed below: