Conradi-Hünermann-Happle syndrome

Conradi-Hünermann-Happle syndrome (also known as X-linked dominant chondrodysplasia punctata) is a rare genetic disorder characterized by skeletal abnormalities, skin changes, and eye abnormalities. It is named after the three physicians who first described it: Ernst Conradi, Hans-Rudolf Hünermann, and Rudolf Happle.

Etiology

Conradi-Hünermann-Happle syndrome is caused by mutations in the EMD2 gene, which is located on the X chromosome. This gene provides instructions for making a protein that is involved in the transport of molecules across the nuclear envelope, the membrane that surrounds the nucleus in cells. Mutations in the EMD2 gene disrupt this transport process, leading to the varied symptoms of the syndrome.

Symptoms

The symptoms of Conradi-Hünermann-Happle syndrome can vary widely, even among members of the same family. Common symptoms include short stature, scoliosis (curvature of the spine), cataracts (clouding of the lens of the eye), skin abnormalities such as ichthyosis (scaly skin), and alopecia (hair loss). Some individuals may also have intellectual disability.

Diagnosis

Diagnosis of Conradi-Hünermann-Happle syndrome is based on the presence of characteristic symptoms and can be confirmed by genetic testing to identify a mutation in the EMD2 gene. Prenatal diagnosis is possible if a mutation has been identified in an affected family member.

Treatment

There is currently no cure for Conradi-Hünermann-Happle syndrome, and treatment is focused on managing the symptoms. This may include surgery to correct skeletal abnormalities, treatment for skin abnormalities, and regular eye exams to monitor for cataracts.

Epidemiology

Conradi-Hünermann-Happle syndrome is a rare disorder, with an estimated prevalence of 1 in 100,000 individuals. It is more common in females than in males, as it is an X-linked dominant disorder.

See also

• Chondrodysplasia punctata
• X-linked dominant inheritance
• Genetic disorder

NIH genetic and rare disease info

• NIH info on Conradi-Hünermann-Happle syndrome

Conradi-Hünermann-Happle syndrome is a rare disease.

Conradi-Hünermann-Happle syndrome Resources
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