About Thanatophoric Dysplasia

Thanatophoric dysplasia is a neonatal skeletal disorder. Only a handful of infants born with this disorder have survived into childhood. The oldest known survivor was 4.7 years old.

Causes

• This is not an inherited disorder, but rather a mutation of the FGFR3 gene, a gene that provides instructions on producing proteins for bone and brain-tissue development.

Characteristics

• A disorder similar to dwarfism, thanatophoric dysplasia is characterized by short stubby fingers, excessively short limbs, cloverleaf skull with a large head, extra skin folds, underdeveloped lungs and a short rib cage.

Magnitude

• One in 20,000 to 50,000 births are afflicted with thanatophoric dysplasia.

Treatment

• The ribs do not allow for adequate movement of the lungs, so intubation to a ventilator is often performed for respiratory distress. There is no medication treatment. If nonaggressive treatment is preferred, the infant is kept warm, fed and comfortable.

Prognosis

• "Thanatophoric" is a Greek term and means "death bearing." Infants with this disorder typically are stillborn or die within a few hours after birth due to respiratory failure.