Keppen–Lubinsky syndrome

Autosomal dominant - en

Keppen–Lubinsky syndrome is a rare genetic disorder characterized by a distinct combination of physical and developmental abnormalities. The syndrome was first described by Keppen and Lubinsky, and it is known for its unique clinical features.

Clinical Features

Individuals with Keppen–Lubinsky syndrome typically present with a range of symptoms, including:

• Microcephaly (abnormally small head size)
• Growth retardation
• Intellectual disability
• Distinctive facial features such as a prominent forehead, deep-set eyes, and a small jaw (micrognathia)
• Hypotonia (reduced muscle tone)
• Seizures

Genetics

Keppen–Lubinsky syndrome is believed to be inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene or genes involved in Keppen–Lubinsky syndrome have not yet been identified.

Diagnosis

The diagnosis of Keppen–Lubinsky syndrome is primarily based on clinical evaluation and the presence of characteristic features. Genetic testing may be used to support the diagnosis, although the exact genetic cause remains unknown.

Management

There is no cure for Keppen–Lubinsky syndrome, and treatment is primarily supportive. Management strategies may include:

• Physical therapy to improve muscle tone and motor skills
• Occupational therapy to assist with daily living activities
• Speech therapy to address communication difficulties
• Anticonvulsant medications to control seizures

Prognosis

The prognosis for individuals with Keppen–Lubinsky syndrome varies depending on the severity of symptoms. Early intervention and supportive care can improve the quality of life for affected individuals.

Related Pages

• Genetic disorder
• Microcephaly
• Intellectual disability
• Hypotonia
• Seizures
• Autosomal recessive

External Links

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