How common is Pseudoachondroplasia?

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It affects one in 30,000 people. The condition is also referred to as pseudoachondroplastic dysplasia or pseudoachondroplastic spondyloepiphyseal dysplasia. It is a form of dwarfism. People with pseudoachondroplasia have normal intelligence, head size, and facial features.

Is Pseudoachondroplasia dominant or recessive?

Inheritance. Pseudoachondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

What is the difference between achondroplasia and Pseudoachondroplasia?

Achondroplasia, the single most common form of human dwarfism, results in most cases from one of two very specific mutations in the gene encoding fibroblast growth factor receptor 3 (FGFR3). Pseudoachondroplasia is caused by a variety of mutations in the gene encoding cartilage oligomeric matrix protein (COMP).

What causes Achondrogenesis 1a?

Achondrogenesis type IA is caused by mutations in the TRIP11 gene. Achondrogenesis type IB is caused by mutations in the SLC26A2 gene. These two genes are required for the efficient cellular transport of certain cartilage proteins needed to build skeleton and other tissues.

Is pseudoachondroplasia genetically inherited?

Pseudoachondroplasia is usually diagnosed during early childhood and is an inherited genetic disorder.

Is pseudoachondroplasia autosomal recessive?

Pseudoachondroplasia is inherited in an autosomal dominant manner, though one case of a very rare autosomal recessive form has been documented. The offspring of affected individuals are at 50% risk of inheriting the mutant allele.

Is Pseudoachondroplasia genetically inherited?

What does the FGFR3 gene do?

Researchers believe that the FGFR3 protein regulates bone growth by limiting the formation of bone from cartilage (a process called ossification), particularly in the long bones.

Is Pseudoachondroplasia autosomal recessive?

How is pseudoachondroplasia diagnosed?

A physical exam and diagnostic tests, including X-rays and arthrograms, are used to diagnose pseudoachondroplasia. Orthopaedic conditions of the spine and hips are also commonly seen in patients with pseudoachondroplasia.

What gene mutation causes pseudoachondroplasia?

Mutations in the COMP gene cause pseudoachondroplasia. Genes provide instructions for creating proteins that play critical roles in many functions of the body. When a gene mutation occurs, the protein product may be faulty, inefficient, or absent.

What are the characteristics of pseudoachondroplasia?

Other characteristic features of pseudoachondroplasia include short arms and legs; a waddling walk; joint pain in childhood that progresses to a joint disease known as osteoarthritis; an unusually large range of joint movement ( hyperextensibility) in the hands, knees, and ankles; and a limited range of motion at the elbows and hips.

How is pseudoachondroplasia diagnosed in pregnancies at increased risk for COMP?

Prenatal diagnosis for pregnancies at increased risk for pseudoachondroplasia is accomplished by chorionic villus sampling or amniocentesis, regardless of whether the COMP mutation has been identified in an affected family member.

How is Marfan syndrome diagnosed by molecular genetic testing?

Option 1 When the clinical findings suggest the diagnosis of Marfan syndrome, molecular genetic testingapproaches can include single-genetestingor use of a multigene panel: Single-genetesting. Sequence and deletion/duplication analysisof FBN1are performed.