Pseudoachondroplasia

Also known as: PSACH, short-limb dwarfism.

What is pseudoachondroplasia?

Pseudoachondroplasia is a genetic condition that causes a form of dwarfism. The disease is present at birth, but it’s often not noticed until the child is three to five years old, as the symptoms do not become noticeable until the child begins to grow.

What causes pseudoachondroplasia? 
Pseudoachondroplasia is a disorder caused by a genetic mutation. In some cases, it appears to be hereditary and passed down from parents to children.

What are the symptoms of pseudoachondroplasia? 
Symptoms of pseudoachondroplasia include short arms and legs that do not become apparent until the child is age 3 to 5, bowed legs, scoliosis (curved spine), joint pain, limited range of motion of the joints and other symptoms.

What are pseudoachondroplasia care options? 
Treatment is focused on specific symptoms that can arise with pseudoachondroplasia. This might include physical and occupational therapy, pain medications and surgery to help with joint pain or range of motion problems.

Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 8/7/2018 10:08:12 AM

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April Patient of the Month: Lucky
Lucky started going to physical therapy when he was two because of the delays with sitting up and rolling over. His physical therapist noticed that the problem was not muscular but skeletal, a condition that she couldn't treat. The pediatrician told Janie and Greg, Lucky’s parents, about Nicklaus Children's Hospital. When Janie and Greg visited Nicklaus Children’s Hospital, they met Dr. Harry L Shufflebarger, Pediatric Spinal Surgery Director. He performed the necessary surgeries and now Lucky can enjoy a healthy life.
April Patient of the Month: Lucky
Lucky started going to physical therapy when he was two because of the delays with sitting up and rolling over. His physical therapist noticed that the problem was not muscular but skeletal, a condition that she couldn't treat. The pediatrician told Janie and Greg, Lucky’s parents, about Nicklaus Children's Hospital. When Janie and Greg visited Nicklaus Children’s Hospital, they met Dr. Harry L Shufflebarger, Pediatric Spinal Surgery Director. He performed the necessary surgeries and now Lucky can enjoy a healthy life.

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As one of the largest and most comprehensive pediatric orthopedic practice in Florida, the Nicklaus Chidren's Orthopedic Surgery Program specializes in the care and management of musculo-skeletal conditions in children.