parastremmatic dwarfism
parastremmatic dysplasia

He may have been afflicted with parastremmatic dwarfism.

Parastremmatic dwarfism is apparent at birth, with affected infants usually being described as "stiff", or as "twisted dwarfs" when the skeletal deformities and appearance of dwarfism further present themselves.

Parastremmatic dwarfism is caused by a missense mutation (where one amino acid is replaced by another in a gene sequence) in the TRPV4 gene, located on the long arm of human chromosome 12, at 12q24.11.

Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis (a type of scoliosis that affects the upper back), a distortion and twisting of the limbs, contractures of the large joints, malformations of the vertebrae and pelvis, and incontinence.

Parastremmatic dwarfism is inherited in an autosomal dominant manner, which means that the defective gene responsible for the disease is located on an autosome (chromosome 12 is an autosome), and one copy of the defective gene is sufficient to cause the disorder when inherited from a parent who also has the disorder.