Genetically caused growth disorders

Short stature and tall stature as well as microcephaly and macrocephaly can have different genetic causes. Therefore, the diagnostic procedure depends on the patient’s symptoms.

Short stature

• A distinction can be made between endocrine (growth hormone deficiency), skeletal (e.g. spondyloepiphyseal dysplasia, hypo-/achondroplasia) and syndromic short stature (e.g. Noonan syndrome). We offer panels for these etiologies.
• If Turner syndrome (monosomy X) is suspected chromosomal analysis should be performed.
• When analyzing the CDKN1C and SHOX genes, in addition to sequencing, we perform MLPA analysis to exclude common deletions.
• If Silver-Russel or Prader-Willi syndrome is suspected, we perform a methylation-sensitive MLPA.

Macrosomia / Tall stature

• We offer a general macrosomia panel as well as specific panels for Marfan and Sotos syndrome.
• Beckwith-Wiedemann syndrome should be tested by methylation-sensitive MLPA as well as sequencing.

Hemihypertrophy/Segmental Overgrowth

• Hemihypertrophy can occur, for example, in the context of Beckwith-Wiedemann, Proteus, or Silver-Russell syndrome. It is typical in Klippel-Trénaunay syndrome.
• If a genetic variant cannot be detected from blood (in the case of somatic mosaicism), analysis from an affected area or from another tissue is an option.