Dwarfism
Differential Diagnosis and Causes
Roughly one- haste prenatal and postnatal causes can be defined. Commonly is also the division into primary and secondary dwarfism dwarfism.
Prenatal causes ( Primary dwarfism )
- Chromosomal abnormalities and gene mutations Various syndromes ( Silver-Russell syndrome, Laron syndrome, Turner syndrome, trisomy 21, achondroplasia ), also hypophosphatasia and many other
- Exogenous noxious substances such as nicotine, alcohol ( see also: Fetal alcohol syndrome ), drugs and infections
- Fetal malnutrition
- Placental insufficiency
- Familial short stature
Postnatal causes ( Secondary dwarfism )
- Chronic diseases anemias
- Chronic renal failure
- Heart defects
- Rheumatoid arthritis
- Hypercortisolism
- Hypothyroidism
- Growth hormone deficiency
- Chemotherapy
- High-dose cortisone therapy
- Radiotherapy
- Protein deficiency
- Malresorption or malabsorption (celiac disease, Crohn's disease )
- Malnutrition
- Vitamin deficiency (especially vitamin D)
- Deprivation is the cause of psychosocial dwarfism
- Diabetes mellitus
- Glycogenosen
- Mucopolysaccharidoses
A special form takes the constitutional delay which, although prenatal / family created, but only secondarily its appearance and has a delayed development of bone maturation result. Here a normal body size can be achieved, only with delay.
With regard to the clinical presentation differs to the proportioned dwarfism from dysproportionierten dwarfism:
Proportioned dwarfism (examples)
- Chronic diseases
- Endocrine disorders
- Constitutional delay
- Silver-Russell syndrome
- Metabolic defects
- Trisomy 21
Dysproportionierter dwarfism (examples)
- Achondroplasia
- Hypochondroplasia
Therapy
The treatment depends on the underlying cause. Is a lack of supply of the nutrients, vitamins and the like, the cause required for growth, deficits must be compensated, if necessary by changes in diet. If abnormal hormonal rail of the hormonal status must be balanced, for example, by administration of growth hormones. In this manner, but only so long to take corrective action, as the skeleton is located still growing. After completion of skeletal growth, these measures are unsuccessful in the rule. The determination of bone age is therefore critical for the therapeutic decision.