Pseudoachondroplasia
Encyclopedia
Pseudoachondroplasia is a type of short-limb dwarfism
. It is a genetic autosomal dominant disorder. It is generally not discovered until 2-3 years of age, since growth is normal at first. Pseudoachondroplasia is usually first detected by a delay in crawling, walking, or a curious, waddling gait.
lordosis
and rhizomelic shortening of the limbs becomes apparent. Most pseudoachondroplasiacs are 80-130 centimeters (31-51 inches) in height. Knee deformities (bow-leggedness, knock-knees) are also common. Joint hypermobility
at the wrist and fingers can be seen, although mobility at the elbow is slightly impaired. Osteoarthritis
is a common characteristic of pseudoachondroplasiacs.
(COMP).
Dwarfism
Dwarfism is short stature resulting from a medical condition. It is sometimes defined as an adult height of less than 4 feet 10 inches , although this definition is problematic because short stature in itself is not a disorder....
. It is a genetic autosomal dominant disorder. It is generally not discovered until 2-3 years of age, since growth is normal at first. Pseudoachondroplasia is usually first detected by a delay in crawling, walking, or a curious, waddling gait.
Presentation
As the growth rate slows, lumbarLumbar
In tetrapod anatomy, lumbar is an adjective that means of or pertaining to the abdominal segment of the torso, between the diaphragm and the sacrum ...
lordosis
Lordosis
Lordosis is a medical term used to describe an inward curvature of a portion of the lumbar and cervical vertebral column. Two segments of the vertebral column, namely cervical and lumbar, are normally lordotic, that is, they are set in a curve that has its convexity anteriorly and concavity...
and rhizomelic shortening of the limbs becomes apparent. Most pseudoachondroplasiacs are 80-130 centimeters (31-51 inches) in height. Knee deformities (bow-leggedness, knock-knees) are also common. Joint hypermobility
Hypermobility
Hypermobility describes joints that stretch farther than is normal. For example, some hypermobile people can bend their thumbs backwards to their wrists, bend their knee joints backwards, put their leg behind the head or other contortionist performances...
at the wrist and fingers can be seen, although mobility at the elbow is slightly impaired. Osteoarthritis
Osteoarthritis
Osteoarthritis also known as degenerative arthritis or degenerative joint disease, is a group of mechanical abnormalities involving degradation of joints, including articular cartilage and subchondral bone. Symptoms may include joint pain, tenderness, stiffness, locking, and sometimes an effusion...
is a common characteristic of pseudoachondroplasiacs.
Genetics
The gene for pseudoachondroplasia was located, and is called cartilage oligomeric matrix proteinCartilage oligomeric matrix protein
Cartilage oligomeric matrix protein is a protein that in humans is encoded by the COMP gene.COMP is a marker of cartilage turnover.-Further reading:-External links:* *...
(COMP).