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Aarskog syndrome is a rare inherited disorder characterized by short height, muscular and skeletal irregularities, and problems in the genital area. The child is generally in good health and is able to reach developmental milestones (such as talking, walking, etc.) at usually the same time as other children. In some cases, there is a slight delay in motor (body movement) and learning performances....

Aase syndrome is a rare genetic disorder in which infants are born with anemia and joint and skeletal problems. These individuals have a type of anemia called congenital hypoplastic anemia, which means that they are born with a reduced ability to produce red blood cells. In addition, these individuals typically have three bones (called phalanges) within their thumbs when they should normally hav...

The diagnosis of an aberrant subclavian artery indicates the finding of an abnormal location of one of the subclavian arteries. The arteries are a system of blood vessels that start as large vessels, originating from the heart, that then branch off to smaller and smaller blood vessels to supply blood to the entire body. There are two subclavian arteries; one on the left and one on the right. No...

Abetalipoproteinemia is a rare genetic disease that affects how fats are made and carried around in the body. The body needs fats to help with digestion and to build healthy nerves and muscles. Children with abetalipoproteinemia often have very low amount of fats and cholesterol in their blood and have problems as a result of this, such as diarrhea, inability to gain weight as a baby, and eventua...

Achondrogenesis Type I is a problem in the development of bone and cartilage. The result is a collection of physical symptoms related to the bone abnormalities, including abnormal short stature with short limbs, barrel chest, and a large head for the size of the body. The cause of the problem is genetic and therefore, this condition is inherited within families. At least two types of Achondrogen...

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Full disease list by letter:
3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z | All