IllnessKleinwuchs, idiopatisch; SHOX-Gen

NGS +

Sanger

Human height is a polygenic trait with a heritability of about 80%. More than 700 common genetic variants explain 20% of the size variation in the normal population. Short stature is defined as height that is 2 standard deviations or more below the mean height for children of that sex and chronological age in a given population. This corresponds to a height that is below the 2.3 percentile. Two common causes of short stature are familial and constitutional delay in growth and puberty. Almost every serious systemic disease can lead to reduced growth as a secondary effect. Furthermore, a large number of genetic syndromes and congenital malformations are associated with short stature, which can initially be excluded in part by means of chromosome analysis. Monogenic causes for small stature may follow all classical inheritance patterns. Small stature due to SHOX gene mutations is observed comparatively frequently as a primary bone dysplasia with reduced body size without obvious skeletal anomalies or other disorders but accompanied by normal milestones of development. Depending on the SHOX gene variants and their heterozygous or homozygous states three clinical conditions may arise differing in their degree of severity: idiopathic familial short stature, Léri-Weill dyschondrosteosis and Langer mesomelic Dysplasia. A normal SHOX test result does naturally not exclude other genetic causes.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1215/

• Langer mesomelic dysplasia (SHOX)
• Leri-Weill dyschondrosteosis (SHOX)
• Short stature, idiopathic familial (SHOX)