Chondrodysplasia punctate is a rare genetic disease that affects the eyes, skin, skeletal system, and mental functioning. There are three types: rhizomelic, non-rhizomelic, and Sheffield. Each type has different symptoms and affects males and females differently.
Chondrodysplasia punctate is a term used to encompass a number of very rare hereditary diseases in which an affected individual displays abnormal conditions with the eyes, skin and skeletal system. Furthermore, the disorders also have an effect on mental functioning. There are three different types of chondrodysplasia punctate: rhizomelic, non-rhizomelic, and Sheffield type.
Rhizomelic chondrodysplasia punctate is the result of a mutation of a single gene. An affected individual may have a variety of features associated with this type of disorder, including cataracts, cleft palate, and clubfeet, as well as scales on the skin and spinal abnormalities. Additionally, the individual may also have a stippled appearance on the cartilage, shortened long bones, and mental retardation. Often, fetuses with this disorder die in utero or shortly after birth. An individual who survives birth with the disease has a life expectancy of less than 10 years.
Nonrhizomelic chondrodysplasia punctate is an X-linked disease and is also known as Conradi-Hunermann syndrome. Types of nonrhizomelic disorders include chondrodysplasia of Happle and brachytelephalangic chondrodysplasia punctate. Chondrodysplasia of Happle is an X-linked dominant form of the disease, and brachytelephalangic chondrodysplasia punctate is the X-linked recessive form.
Happle’s chondrodysplasia usually affects females and is fatal in males, as male fetuses with the disease often miscarry. Features of an individual with this nonrhizomelic disorder include asymmetrical arms and legs, a cataract in one eye, and scales or sores on the skin. There is usually no mental retardation and an affected individual’s intelligence is normal.
Brachytelepalangic chondrodysplasia punctate most commonly affects males, although it can also be found in females. Features of this type of disorder include facial abnormalities, as well as cartilage located in the larynx and trachea. Examples of facial abnormalities include cleft palate, small teeth, and a flat nose. These abnormalities of the face, larynx, and trachea can cause newborns to have difficulty breathing, resulting in the need for respiratory therapy. An affected individual also shows calcifications not only in the feet and legs, but also in the small fingers and toes.
Sheffield type is considered a milder form of chondrodysplasia punctate. This disorder affects both males and females. As far as the specific genetic mutation is concerned, less is known about the Sheffield type. Features of the Sheffield type include an abnormal, speckled appearance on the cartilage, flattened facial features, and mental retardation.
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