Lubinsky syndrome
Lubinsky Syndrome
Lubinsky syndrome (pronounced loo-bin-skee sin-drohm) is a rare genetic disorder characterized by a variety of physical and developmental abnormalities.
Etymology
The syndrome is named after Dr. Marc Lubinsky, the medical geneticist who first described the condition in 1994.
Definition
Lubinsky syndrome is a condition that primarily affects the development of the teeth, nails, and brain. Individuals with this syndrome often have intellectual disability and distinctive facial features.
Symptoms
The most common symptoms of Lubinsky syndrome include intellectual disability, microcephaly (small head size), hypodontia (missing teeth), and onychodysplasia (abnormal nail development). Other symptoms may include short stature, facial dysmorphism, and seizures.
Causes
Lubinsky syndrome is caused by mutations in the SMOC1 gene. This gene provides instructions for making a protein that is involved in the development of the teeth, nails, and brain.
Diagnosis
Diagnosis of Lubinsky syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for Lubinsky syndrome. Treatment is symptomatic and supportive, and may include dental care, physical therapy, and educational support.
Prognosis
The prognosis for individuals with Lubinsky syndrome varies depending on the severity of symptoms. With appropriate support and care, many individuals with this condition can lead fulfilling lives.
See Also
External links
- Medical encyclopedia article on Lubinsky syndrome
- Wikipedia's article - Lubinsky syndrome
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