Growth disorders

Human Genetics

Head of Institute:
Prof. Dr. med. André Reis

Growth retardation

Growth is a fundamental feature of our organism. Growth retardation as main symptom is thus a common issue in both human genetics and in the pediatric clinic. The spectrum of the underlying genetic causes reaches from growth hormone secretion and action to skeletal dysplasias as well as to complex malformation syndromes. At the molecular level, central mechanisms of hormonal control, cell division, morphogenesis and maturation are affected. However, no etiologically established diagnosis is available in approximately 80% of patients. The genetic investigation is thus an important cornerstone for the assessment of prognosis and potential therapeutic intervention. The group of PD Dr. Christian Thiel focuses on the identification and functional characterization of growth disorders. For affected patients and their families an interdisciplinary special consultation can be arranged.

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Summary