There are various rare genetic disorders that can affect a child’s development, including mitochondrial disorders, cri du chat syndrome, Van der Woude syndrome, and Angelman syndrome. Symptoms vary in severity, and treatment involves a supportive team of professionals. Information about these diseases is limited due to their rarity.
There are many different types of rare genetic disorders that can affect a child’s development. Mitochondrial disorders and cri du chat syndrome are a couple of examples of rare genetic disorders. Van der Woude syndrome and Angelman syndrome are also rare disease types. Due to their rarity, information about these diseases is limited.
One type of rare genetic disorder includes mitochondrial disorders. This type of genetic disease describes mutations of the non-chromosomal DNA of the mitochondria. Mitochondria are very small subunits of plant and animal cells. They are small, round or rod-like structures in the cytoplasm, or fluid of the cell, that aid in cellular respiration. A typical mitochondrion contains 10 to 10 pieces of circular DNA, and when one of these is malformed or mutated, it is referred to as a mitochondrial disorder.
Cri du chat syndrome is among the most enigmatic rare genetic diseases. This disease is also known as 5p- syndrome and cat-cry syndrome and describes missing genetic material on the small arm of chromosome five. It remains unknown what might cause the genetic material to be erased. Symptoms of this disorder vary in severity, depending on the amount of missing genetic material, and can include high-pitched crying, delayed development, and widely spaced eyes. Treatment consists of a supportive team of parents, therapists, and medical professionals to help your child reach his or her fullest potential.
Another type of rare genetic disease is called Van der Woude syndrome, which affects about one in 200,000 people worldwide. This disorder is rare, but indiscriminate, and affects people of all races. Van der Woude syndrome tends to be hereditary, but it can occur in individuals with no family history. This disorder describes deformities of the mouth and face, including cleft palate, missing lower teeth, and tongue deformities. The severity of the deformities varies in each case, and most people can be treated with plastic surgery.
Angelman syndrome is a type of rare genetic disorder that goes by many different names, including happy puppet syndrome and puppet babies, and is a type of mental retardation. This type of genetic disorder affects only about one in 12,000 to 20,000 people and can present with a wide variety of symptoms. Delayed development, speech problems and small head size are some of the symptoms of this disorder. It is sometimes called happy puppet disorder because movement difficulties often result in jerky, puppet-like movements, and the behavior of individuals with this disorder tends to be excitable, with frequent laughing and smiling.
Protect your devices with Threat Protection by NordVPN
