2023年6月6日 · Pseudoachondroplasia is a type of dwarfism caused by a genetic mutation. The condition causes short stature, short arms and legs, skeletal abnormalities, joint laxity and joint pain. But it doesn’t affect facial features, head size, intelligence or lifespan.

Pseudoachondroplasia (also known as PSACH, pseudoachondroplastic dysplasia, and pseudoachondroplastic spondyloepiphyseal dysplasia syndrome) is an osteochondrodysplasia that results in mild to severely short stature due to the …

Pseudoachondroplasia is a rare, inherited disorder that affects bone growth. It is considered a form of dwarfism and affects one in 30,000 people.

Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. Other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Intelligence, facial features and head size are usually normal.

All people with pseudoachondroplasia have short stature. The average height of adult males with this condition is 120 centimeters (3 feet, 11 inches), and the average height of adult females is 116 centimeters (3 feet, 9 inches).

What is pseudoachondroplasia? Pseudoachondroplasia is a common type of skeletal dysplasia usually recognized in a patient between the ages of 2 and 4 years old. It is a genetic disorder passed on as a recessive disorder (meaning by both parents) and involves the overproduction of cartilage oligomeric matrix protein.

2024年5月1日 · Achondroplasia and pseudoachondroplasia are genetic disorders that are characterized by human dwarfism and low stature. Learn the difference between the two disorders, as well as their symptoms, diagnosis, and treatment.

Clinically, it is recognized as a form of short-limbed dwarfism, with body proportions similar to those of achondroplasia, yet with typical-sized heads and facial features. The radiographic features of pseudoachondroplasia includes short and broad long bones with flaring of the metaphyses. Epiphyseal ossification is delayed.

Pseudoachondroplasia is a rare genetic disorder characterized by disproportionate short stature, or dwarfism, due to abnormalities in the development of bone and cartilage.

Pseudoachondroplasia is a rare rhizomelic short-limbed skeletal dysplasia. Its inheritance is varied; autosomal dominant pattern and germline or somatic mutations can occur. Children at 2–3 years of age present with short height, gait disturbances, or limb deformities.