* Not a rare disease
- Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus
- Alopecia-contractures-dwarfism-intellectual disability syndrome
- Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis
- Bangstad syndrome
- Microcephalic primordial dwarfism, Montreal type
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Tests & Diagnosis
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Some types of dwarfism can be identified through prenatal testing if a doctor suspects a particular condition and tests for it. However, most cases are not identified until after the child is born. In those instances, the doctor makes a diagnosis based on the child's appearance, failure to grow, and X-rays of the bones. Depending on the type of dwarfism the child has, diagnosis often can be made almost immediately after birth. Once a diagnosis is made, there is no "treatment" for most of the conditions that lead to short stature. Hormonal or metabolic problems may be treated with hormone injections or special diets to spark a child's growth, but skeletal dysplasias cannot be "cured." Individuals who are interested in learning whether they or family members have, or are at risk for, dwarfism should speak with their health care provider or a genetics professional.
Last updated: 5/19/2011
- Angela L. Duker. Dwarfism. KidsHealth. March 2011; http://kidshealth.org/parent/medical/bones/dwarfism.html. Accessed 5/19/2011.