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Diamond-Blackfan Anaemia:

This is an inherited disease, which affects approximately five infants out of every 1 million. Children have anaemia because the bone marrow is not making enough red blood cells. Approximately 33 percent may have physical abnormalities, including wide-set eyes, low-set ears, a webbed neck and short stature. Some children have heart and skeletal abnormalities as well.

Cartilage hair hypoplasia is a hereditary disease. Children have thin, light-colored hair that is hypoplastic, or underdeveloped. They have short limbs and a short stature. The children are not only anaemic, but may have thrombocytopenia and leukopenia.

Thrombocytopenia is an abnormally low number of thrombocytes, or platelets. Children with leukopenia have a very low number of white blood cells, and since these cells fight infection, they may be susceptible to contracting various infections. Some have an impaired immune system and develop cancers. Shwachman-Diamond Syndrome:

Approximately one child in every 100,000 is born with this ribosomal disorder. Most have problems with their pancreas. This leads to steatorrhea, or a fatty bowel movement, because the child's pancreas does not release enough enzymes to digest fats. These children have neutropenia, or a low number of the neutrophil type of white blood cell, which gives them reoccurring infections. About 50 percent are anemic and some have thrombocytopenia.

Most children are short and have skeletal abnormalities like dental cavities and webbed fingers.

Dyskeratosis Congenita:

This inherited disease is more common in males than females and is seen in one child out of every 1 million. The symptoms start when a child is approximately 5 years old. They may have tan or gray spots on their skin, nail abnormalities, and hair loss from their eyebrows, eyelashes and scalp. Later on as children or as young adults, they usually develop aplastic aneia, where the bone marrow does not make enough red blood cells, white blood cells or platelets. The disease is caused by a gene needed to make ribosomes.

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