Pseudoachondroplasia - Wikipedia
Pseudoachondroplasia is a genetic disorder of bone growth that causes short stature and limb deformities. It is caused by a mutation in the COMP gene, which affects chondrocyte migration and proliferation.
Pseudoachondroplasia (Dwarfism): Symptoms, Causes & Outlook
2023年6月6日 · Pseudoachondroplasia is a rare genetic disorder that causes short stature, skeletal abnormalities and joint problems. Learn about the diagnosis, management and outlook for people with this type of dwarfism.
Pseudoachondroplasia - Johns Hopkins Medicine
Learn about pseudoachondroplasia, a genetic disorder that affects the skeleton and causes short stature, bowed legs and arthritis. Find out how it is diagnosed and treated by orthopaedic specialists at Johns Hopkins.
Pseudoachondroplasia - Children's Hospital of Philadelphia
Pseudoachondroplasia is a genetic disorder that affects bone growth and causes short stature, joint pain and curvature of the spine. Learn about the causes, symptoms, diagnosis and treatment options from Children's Hospital of Philadelphia experts.
Pseudoachondroplasia: MedlinePlus Genetics
Learn about pseudoachondroplasia, a rare genetic disorder that causes short stature and bone abnormalities. Find out the causes, symptoms, inheritance, and resources for this condition.
Pseudoachondroplasia - Symptoms, Causes, Treatment | NORD
2020年9月9日 · Pseudoachondroplasia was first described in 1959 by Drs. Maroteaux and Lamy and was originally considered to be a type of spondyloepiphyseal dysplasia. It is now classified as a COMP opathy in the category of multiple epiphyseal dysplasia.
Pseudoachondroplasia: Symptoms, Diagnosis, and More
2024年4月26日 · Pseudoachondroplasia is a genetic condition that causes short stature, joint pain, and spinal problems. Learn about the symptoms, diagnosis, treatment, and coping tips for this rare type of dwarfism.
Pseudoachondroplasia | About the Disease | GARD - Genetic and …
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.
Pseudoachondroplasia Causes & Symptoms - Nemours
Pseudoachondroplasia is a rare genetic condition that affects bone and cartilage growth, causing short stature and joint problems. Learn about the inheritance, diagnosis, physical characteristics and management of pseudoachondroplasia from …
Pseudoachondroplasia | Rady Children's Hospital - rchsd.org
What Causes Pseudoachondroplasia? Pseudoachondroplasia happens because of a mutation (change) in a gene called COMP. This change causes a problem with how bone and cartilage grow. The bones end up shorter than they typically would be. A child can inherit pseudoachondroplasia if either parent has it.
Achondroplasia vs Pseudoachondroplasia: Differences, …
Achondroplasia and pseudoachondroplasia are among the most prevalent conditions in humans that cause low stature and are clinically and genetically different phenotypes.. Achondroplasia …
Orphanet: Pseudoachondroplasia
Pseudoachondroplasia is a genetic condition that causes severe growth deficiency and deformations. It is caused by mutations in the COMP gene and inherited in an autosomal dominant manner.
Pseudoachondroplasia (for Parents) | Nemours KidsHealth
What Causes Pseudoachondroplasia? Pseudoachondroplasia happens because of a mutation (change) in a gene called COMP. This change causes a problem with how bone and cartilage grow. The bones end up shorter than they typically would be. A child can inherit pseudoachondroplasia if either parent has it.
COMP-Related Pseudoachondroplasia - GeneReviews® - NCBI Bookshelf
2004年8月20日 · COMP-related pseudoachondroplasia (COMP-PSACH) is characterized by normal length at birth and normal facies. Often the presenting feature is a waddling gait, recognized at the onset of walking.
What is pseudoachondroplasia? - Nicklaus Children's Hospital
2022年1月11日 · 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.
Orthopaedic manifestations of pseudoachondroplasia - PMC
2019年8月1日 · Pseudoachondroplasia is the second-most common form of skeletal dysplasia, and it is characterized by a rare short-limb, short-trunk disproportionate dwarfing type condition inherited in a dominant autosomal pattern.
Pseudoachondroplasia is an inherited disorder of bone growth. It was once thought to be related to another disorder of bone growth called achondroplasia, but without that disorder's characteristic facial features. More research has demonstrated that pseudoachondroplasia is a separate disorder.
Pseudoachondroplasia - an overview | ScienceDirect Topics
Pseudoachondroplasia is characterized by normal size at birth and normal growth curves until 2–4 years of age. Patients present with marked shortness of hands and feet, bowing of long …
Pseudoachondroplasia, Skeletal Dysplasia
Nemours has been recognized for delivering advanced pediatric orthopedic care since 1940. Families from all over the world travel to see our skeletal dysplasia experts. Our genetics …
Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7 …
2011年9月15日 · Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias resulting in short-limbed dwarfism, joint pain, and stiffness.
Achondroplasia - Pediatrics - Orthobullets
2024年1月29日 · Learn about achondroplasia, a common skeletal dysplasia caused by a mutation in FGFR3 gene. Find out the clinical, radiographic, and genetic features, associated conditions, and treatment options for patients with achondroplasia.
Novel therapeutic interventions for pseudoachondroplasia
Pseudoachondroplasia (PSACH), a severe short-limbed dwarfing condition, is associated with life-long joint pain and early onset osteoarthritis. PSACH is caused by mutations in cartilage oligomeric matrix protein (COMP), a pentameric matricellular protein expressed primarily in cartilage and other musculoskeletal tissues.
Pseudoachondroplasia - MU Health Care - Columbia, MO
Pseudoachondroplasia is a form of dwarfism estimated to affect one in 30,000 people. Children aren’t usually diagnosed at birth, but characteristics usually become noticeable from 2 to 4 years of age.