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Thanatophoric dysplasia is a fatal skeletal anomaly caused by a de novo mutation in the FGFR3 gene, resulting in dysfunctional bone growth. Physical signs include shortened limbs, a narrow trunk, and macrocephaly. Babies with this disorder typically die within hours of being born, and even with aggressive treatment, survival is rare.
Thanatophoric dysplasia is a fatal skeletal anomaly considered a variation of dwarfism. Dysplasia is a term that describes the presence of a developmental abnormality. The term thanatophoric is a Greek word meaning “to bring death” and refers to the fact that this condition is always fatal. A baby with thanatophoric dysplasia typically dies within hours of being born. This genetic disorder occurs in equal numbers in male and female babies, with a rate of approximately one in 20,000 to 50,000 births.
Thanatophore dysplasia is caused by a mutation in a gene called FGFR3. This is not, however, an inherited disorder and a parent cannot have this condition and pass it on directly to a child. Instead, the mutation that causes this condition is known as a de novo mutation, which means that it occurs spontaneously during the production of sperm or egg cells. Mutation in the FGFR3 gene leads to dysfunctional bone growth, resulting in a characteristic set of growth abnormalities.
The physical signs of thanatophoric dysplasia can be seen immediately after birth. These include severely shortened limbs, a narrow trunk, a protruding abdomen and a condition called macrocephaly, in which the head is larger than normal. The baby is also much smaller than normal, averaging about 16 inches (40 cm) in length. Additionally, hypotonia, or generalized muscle weakness, is a feature of children born with this disorder.
Before birth, some features of this disorder can be seen on ultrasound examination of the fetus. Growth failure, especially of the limbs; macrocephaly; arched femurs; a narrow chest cavity; and shortened ribs can be seen on an ultrasound when a fetus is affected by thanatophoric dysplasia. Despite the characteristic appearance of these symptoms, it is often difficult to conclusively diagnose the disorder with ultrasound alone.
Children who are born with this disorder cannot survive without extensive and aggressive hospital medical care. Most of these infants have significant respiratory failure at birth and must be admitted to a neonatal intensive care unit for intubation and monitoring. Depending on the child’s needs, medications might be used to relieve medical conditions that arise due to the dysplasia. In cases where the parents do not wish to undergo aggressive treatment, the child is fed and kept comfortable for as long as he survives.
Even with aggressive treatment, however, it is rare for a baby with the disorder to live more than a few hours after birth. In the rare event that a child survives, they are placed in a long-term care unit, as hospital care is needed for a long time before the child can be taken home. Complications such as severe developmental delay, failure to thrive, and seizures are likely for children who survive the neonatal period. A baby who survives the neonatal period might live for a year or two before succumbing to fatal respiratory complications.
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