What Are the Different Types of Rare Genetic Diseases?

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  • Written By: Marisa O'Connor
  • Edited By: Melissa Wiley
  • Last Modified Date: 04 November 2019
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There are many different types of rare genetic diseases that can affect the development of a child. Mitochondrial disorders and cri du chat syndrome are a couple examples of rare genetic disorders. Van der Woude syndrome and Angelman syndrome are also types of rare diseases. Owing to their rarity, information about these diseases is limited.

One type of rare genetic disease includes the mitochondrial disorders. This type of genetic disorder describes mutations of the nonchromosomal DNA of mitochondria. Mitochondria are very small subunits of plant and animal cells. They are small and round or rod-like structures in the cytoplasm, or fluid of the cell, that aid in cellular respiration. A typical mitochondria contains five to 10 pieces of circular DNA, and when any of these are malformed or mutated, it is called a mitochondrial disorder.

Cri du chat syndrome is among the most enigmatic of 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 could cause the deletion of genetic material. Symptoms of this disorder vary in severity, depending on the amount of genetic material missing, and may include a high-pitched cry, delayed development, and widely spaced eyes. Treatment consists of a team of support from the parents, therapists, and medical professionals to help the child reach his or her maximum potential.


Another type of rare genetic diseases is called Van der Woude syndrome, affecting about one in 200,000 people in the world. This disorder is rare, but indiscriminate, affecting people of all races. Van der Woude syndrome tends to be hereditary, but may present in individuals with no family history. This disorder describes mouth and facial deformities, including cleft palate, missing lower teeth, and tongue deformities. The severity of deformities varies with each case, and most individuals can be treated with plastic surgery.

Angelman syndrome is a type of the rare genetic diseases that goes by many different names, including happy puppet syndrome and puppet children, and is a type of mental retardation. This type of genetic disorder affects only about one in every 12,000 to 20,000 people and can present 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 the movement difficulties often result in jerky, puppet-like movements, and the demeanor of individuals with this disorder tends to be excitable, with frequent laughter and smiling.


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