Dwarfism of Paltauf

Paltauf dwarfism is a hereditary autosomal recessive disease manifested by short stature.

Affects all people of any gender in 1 in 80 births. The most severe cases are in children. Symptoms appear around the age of 5-7 years. In approximately 50% of cases, skeletal deformation does not occur. Progression occurs over 2-3 years. The signs resemble the result of 15 years of illness: deformation of the skull, underdevelopment of the respiratory system, large belly, crooked back. Patients often find it difficult to chew and speak. Moreover, 17% have physiological ascites.

Diagnose