Question
What are the common symptoms of dwarfism?
Answer
Chondrodysplasia is a type of congenital dwarfism that is most commonly caused by a defect in ossification of cartilage while membranous ossification remains normal; it is an autosomal dominant genetic disorder, with more than 80% of cases being sporadic. The symptoms are evident at birth, with the most prominent feature being dwarfism. Typical cases show uneven body proportions, primarily with short limbs, especially the upper arms and thighs, while the trunk is normal. The head is large, the face is wide, the forehead and both sides of the top of the head are wide, the middle finger and the fourth finger are separated, forming a ‘V’ shape, known as “triradiate hand”; the lower limbs are curved, and intelligence remains normal. The final adult height is estimated to be between 112 to 136 cm for males and 112 to 136 cm for females.