Krause-Kivlin syndrome

Krause-Kivlin syndrome is a rare genetic disorder characterized by a combination of ocular and skeletal abnormalities. The syndrome is also known as Peters Plus syndrome due to its association with Peters anomaly, a type of eye disorder.

Symptoms and Signs

The primary symptoms of Krause-Kivlin syndrome include congenital glaucoma, corneal opacity, and short stature. Other common features include a broad, flat nasal bridge, a prominent forehead, and an unusually small jaw (micrognathia). Some individuals may also have heart defects, hearing loss, and intellectual disability.

Genetics

Krause-Kivlin syndrome is caused by mutations in the B3GALTL gene. This gene provides instructions for making an enzyme that is involved in the production of a group of sugars called glycosaminoglycans. These sugars are important for the development and maintenance of many tissues and organs, including the eyes and bones.

Diagnosis

Diagnosis of Krause-Kivlin syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the B3GALTL gene.

Treatment

Treatment for Krause-Kivlin syndrome is symptomatic and supportive. This may include surgery to correct eye abnormalities and physical therapy to improve mobility and strength. Individuals with heart defects or hearing loss may require additional treatments.

Prognosis

The prognosis for individuals with Krause-Kivlin syndrome varies depending on the severity of symptoms. With appropriate treatment and management, many individuals with this syndrome can lead productive lives.

See Also

• Genetic disorder
• Congenital glaucoma
• Peters anomaly
• B3GALTL

NIH genetic and rare disease info

• NIH info on Krause-Kivlin syndrome

Krause-Kivlin syndrome is a rare disease.

Krause-Kivlin syndrome Resources
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