What is chondrodysplasia punctata?
chondrodysplasia punctata is a term used to include a set of very rare inherited disorders in which the affected individual shows abnormal conditions through the eyes, skin and skeletal system. In addition, disorders also affect mental functioning. There are three different types of chondrodysplasia punctata: rhizomelor, non-rhizomellic and sheffield type.
Rhizomerelic chondrodysplasia punctata is the result of mutation with one gene. The affected individual may show a number of characteristics associated with this type of disorder, including cataract, cleft palate and club persons, as well as scales on the skin and abnormalities of the spine. In addition, the individual could also show a dotted look on cartilage, shortened long bones and mental retardation. Fruits with this disorder often die when they are in the womb or shortly after birth. An individual who survives birth with a disorder has a life expectancy of less than 10 years.
non-rhizomelic chondrodysplasia punctata is a disorder linked to x and is also knownHe has a Conradi-Hunermann syndrome. Types of non-rhizomellic disorders include Happle's Chondrodysplasia and Brachytephalangic Chondrodysplasia Punctata. Happe's chondrodysplasia is a x-bound dominant form of disorder and brachytelinepalangic chondrodysplasia punctata is a recessive form linked to X because chondrodysplasia is usually in men and is the death of individual AM with this non-rihelical disorder includes asymmetric arm and leg Skin ulcers. Usually there is no mental retardation and the intelligence of the affected individual is normal.
Brachytelangic chondrodysplasia punctata more often affects men, although it can also be found in women. The characteristics of this disorder include the abnormalities of the face, as well as the cartilage located in the larynx and the trachea. Examples of face abnormalities include a cleft floor, small teeth and a flat nose. These abnormalThose faces, larynx and trachea can cause newborns to have difficulty breathing, resulting in the need for respiratory therapy. The affected individual also shows calcification not only in the legs and legs, but also in small fingers and feet.
The Sheffield type is considered a milder form of chondrodysplasia punctata. This disorder affects both men and women. As regards a specific genetic mutation, less is known about Sheffield. Shaffield characteristics include an abnormal, dotted look on cartilage, facial features that are flattened and mental retardation.