Krause–Kivlin syndrome

Krause–Kivlin syndrome is a rare genetic disorder characterized by ocular abnormalities and craniofacial anomalies. The syndrome was first described by Krause and Kivlin in 1978, hence the name.

Symptoms and Signs

The most common symptoms of Krause–Kivlin syndrome include microphthalmia (abnormally small eyes), microcornea (small cornea), and cataract (clouding of the eye lens). Craniofacial anomalies may include micrognathia (small lower jaw), microcephaly (small head size), and ear deformities. Some individuals may also exhibit intellectual disability and growth retardation.

Causes

The exact cause of Krause–Kivlin syndrome is unknown. However, it is believed to be a genetic disorder, possibly inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the syndrome.

Diagnosis

Diagnosis of Krause–Kivlin syndrome is based on clinical examination and the presence of characteristic symptoms. Genetic testing may be used to confirm the diagnosis and identify the specific gene mutation.

Treatment

There is currently no cure for Krause–Kivlin syndrome. Treatment is symptomatic and supportive, and may include surgery to correct ocular and craniofacial abnormalities, as well as special education and therapy for intellectual disability.

Prognosis

The prognosis for individuals with Krause–Kivlin syndrome varies depending on the severity of symptoms. With appropriate treatment and support, many individuals can lead fulfilling lives.

See Also

• Genetic disorders
• Microphthalmia
• Microcornea
• Cataract
• Micrognathia
• Microcephaly
• Intellectual disability
• Growth retardation
• Autosomal recessive

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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