Conradi–Hünermann syndrome

Conradi–Hünermann syndrome (also known as Happle syndrome) is a rare, genetic disorder characterized by skeletal malformations, skin abnormalities, cataracts and short stature. It is a form of chondrodysplasia punctata, a group of disorders characterized by the formation of punctate calcifications in growing cartilage.

Symptoms and Signs

The symptoms of Conradi-Hünermann syndrome can vary greatly from person to person. Some common symptoms include:

• Short stature
• Cataracts in one or both eyes
• Skin abnormalities such as ichthyosis (scaly skin) and alopecia (hair loss)
• Skeletal malformations, including scoliosis (curvature of the spine), kyphosis (forward rounding of the back), and shortening of the long bones in the arms and legs

Causes

Conradi-Hünermann syndrome is caused by mutations in the EMD2 gene. This gene provides instructions for making a protein that is essential for the normal development of skin, bones, and eyes. Mutations in the EMD2 gene disrupt this normal development, leading to the symptoms of Conradi-Hünermann syndrome.

Diagnosis

Diagnosis of Conradi-Hünermann syndrome is based on the presence of characteristic symptoms and signs. Genetic testing can confirm the diagnosis by identifying a mutation in the EMD2 gene.

Treatment

There is no cure for Conradi-Hünermann syndrome. Treatment is supportive and based on the symptoms present in each individual. This may include physical therapy for skeletal malformations, surgery for cataracts, and skin care for ichthyosis.

See also

• Chondrodysplasia punctata
• Genetic disorder
• EMD2

References

Conradi–Hünermann syndrome Resources
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