What is metaphyseal dysplasia?
Metaphyseal dysplasia (also known as Pyle disease, metaphyseal chondrodysplasia, metaphyseal dysostosis) is a rare autosomal recessive disorder characterized by flaring of the ends of long bones with relative constriction and sclerosis of the diaphysis and mild cranial sclerosis.
What causes metaphyseal chondrodysplasia?
MCDS is caused by a mutation of the gene for type X collagen called COL10A1. This gene has been mapped to chromosome 6q21-22.3. MCDS is transmitted as an autosomal dominant trait. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual.
What causes Pyle?
Pyle disease is caused by mutations in the SFRP4 gene. This gene provides instructions for making a protein that blocks (inhibits) a process called Wnt signaling, which is involved in the development of several tissues and organs throughout the body.
What is osteochondral dysplasia?
Osteochondral dysplasia is a more general term for a disorder of the development of bone and cartilage (Minor and Farnum 1988; Lachman 1998). This case report describes a Friesian foal with osteochondral dysplasia of the coxofemoral joints, diagnosed noninvasively using computed tomography (CT).
What is Kniest dysplasia?
Kniest syndrome is a form of skeletal dysplasia affecting the cartilage. A physical exam is used to diagnose Kniest syndrome, along with X-rays and/or arthrograms. Treatment is usually based on the associated orthopaedic conditions that present in a patient with Kniest syndrome.
What is metaphyseal sclerosis?
A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of …
What does Pyle mean?
English: from Middle English pile ‘stake’, ‘post’ (via Old English from Latin pilum ‘spike’, ‘javelin’), hence a topographic name for someone who lived near a stake or post serving as a landmark or a metonymic occupational name for a stake maker or a nickname for a tall strong man.
What does Pyle mean in medical terms?
Combining form denoting the PORTAL VEIN.
Are Scottish folds in pain?
Ask any vet who’s seen a lot of the breed, and especially any feline specialist. They’ll tell you that most Scottish Folds live in chronic pain, all because their looks have been given priority over their health.
What is bone dysplasia?
Skeletal dysplasia is a category of rare genetic disorders that cause abnormal development of a baby’s bones, joints, and cartilage. While skeletal dysplasia affects different parts of the body in different children, the areas most often affected include the legs and arms, ribcage, skull, and spine.
Is Kniest dysplasia rare?
Kniest dysplasia is an extremely rare disorder of bone growth that leads to short stature, malformed bones and joints, and skeletal abnormalities. It’s diagnosed only once out of every 1 million births.
How is Metaphyseal dysplasia a rare disease?
It is a rare disease in which the outer part of the shafts of long bones is thinner than normal and there is an increased chance of fractures. Its hallmark feature is an abnormality of the long bones in the arms and legs in which the ends ( metaphyses) of the bones are abnormally broad; the shape of the bones resembles a boat oar or paddle.
What kind of bone growth does Craniometaphyseal dysplasia cause?
Craniometaphyseal dysplasia is a rare condition characterized by thickening (overgrowth) of bones in the skull (cranium) and abnormalities in a region at the end of long bones known as the metaphysis. The abnormal bone growth continues throughout life.
When to suspect metaphyseal chondrodysplasia Schmid type?
Metaphyseal chondrodysplasia Schmid type is a very rare bone disorder that affects males and females in equal numbers. Individuals of several large families (kindred) have been documented in the medical literature. In most cases, the diagnosis of MCDS is suspected during early childhood, usually by the second or third year of life.
What is the name of the rare bone disease?
Metaphyseal dysplasia. Metaphyseal dysplasia, also known as Pyle’s disease, Pyle’s syndrome, Pyle-Cohn syndrome, and Bakwin-Krida syndrome is a rare disease in which the outer part of the shafts of long bones is thinner than normal and there is an increased chance of fractures .