Conradi-Hünermann syndrome

Conradi–Hünermann syndrome is the designation for a congenital genetic disorder that primarily affects the skeletal system.

Causes

The cause of the syndrome is a mutation of a specific gene that is located on the X chromosome.

Symptoms

The disorder is mainly associated with abnormalities of the skeletal system. Typical features include short stature, short limbs (often asymmetrical), and spinal curvature. Large amounts of calcium are deposited at the ends of the long bones. Certain facial abnormalities may also be present, such as a flat face and a depressed nasal bridge. The eyes may also be affected, with patients more frequently developing cataracts. Intellectual functioning is usually normal; intellectual disability occurs only exceptionally.

Diagnosis

The disease can be diagnosed based on the presence of the above‑mentioned clinical symptoms and by performing specialized genetic testing that demonstrates a mutation of the relevant gene.

Treatment

There is no prevention for this congenital syndrome, and it cannot be cured. Short lower limbs may be partially lengthened through orthopedic surgical procedures.

• nízky vzrast
• krátke končatiny
• krivá chrbtica
• problémy s kosťami
• plochá tvár
• prepadnutý koreň nosa
• šedý zákal (alebo iné problémy so zrakom)
• výnimočne mentálna retardácia