Diagnosis of Restricted growth

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A diagnosis is made on the basis of information gathered from examination of the patient, in addition to family history and results of tests. However, Proportionate Short Stature may not be noticeable until childhood or adolescence, when growth patterns start to show delay. The conditions responsible for Disproportionate Short Stature are sometimes diagnosed at birth, but in some people may only be evident later in life. For example, the genetic condition pseudoachondroplasia, which is frequently detected in children of around three years old; and Morquio disease, which results in severely short stature but usually does not become apparent until the age of 18 months.

Prenatal diagnosis may be offered to parents with a genetic history of some syndromes. This is likely to involve chorionic villus sampling at around 10 weeks of pregnancy, and/or amniocentesis between 16 and 20 weeks.

Chromosomal analysis through blood tests is also available in some cases. Urine tests can determine enzyme deficiency disorders. Biopsies and X-rays can help to diagnose abnormalities in bone growth and/or body tissues, such as skin or bone marrow.