SNP Shot: Genomic Insights

Thanatophoric dysplasia is a grave skeletal condition marked by very short arms and legs, along with excess skin folds on these limbs. The disorder also presents with a small chest cavity, shortened ribs, underdeveloped lungs, and an enlarged head exhibiting a prominent forehead and widely set eyes.

Scientists recognize two primary types of thanatophoric dysplasia: type I and type II. The presence of curved femurs (thigh bones) and flattened vertebral bones (platyspondyly) differentiates type I. Conversely, type II is defined by straight femurs and a distinctive skull malformation known as a cloverleaf skull.

The name "thanatophoric" originates from the Greek language, meaning "death-bringing." Infants born with thanatophoric dysplasia typically are stillborn or succumb to respiratory failure shortly after birth. In rare instances, with significant medical intervention, some affected individuals have lived into childhood.

Inheritance:

Thanatophoric dysplasia is classified as an autosomal dominant condition because a single altered copy of the FGFR3 gene within each cell is enough to trigger the disorder. Almost all instances of thanatophoric dysplasia arise from new mutations in the FGFR3 gene and appear in individuals with no prior family history of the condition. Because affected individuals are not known to have reproduced, the disorder has not been inherited by subsequent generations.