Lenz microphthalmia syndrome
Lenz Microphthalmia Syndrome
Lenz Microphthalmia Syndrome (pronunciation: lenz my-kroh-OF-thal-mee-uh sin-drohm) is a rare genetic disorder characterized by abnormalities in the eyes, teeth, hands, and in some cases, mental retardation. The syndrome is named after the German pediatrician, Dr. Widukind Lenz, who first described the condition in 1955.
Etymology
The term Lenz Microphthalmia Syndrome is derived from the name of Dr. Widukind Lenz, the pediatrician who first described the condition, and the Greek words 'micros' meaning small, and 'ophthalmos' meaning eye. This refers to the characteristic small eye size observed in individuals with this syndrome.
Symptoms
The primary symptom of Lenz Microphthalmia Syndrome is the presence of abnormally small eyes (microphthalmia). Other symptoms may include dental abnormalities, such as missing or misshapen teeth (dental dysplasia), and abnormalities in the fingers and toes (syndactyly or polydactyly). Some individuals may also exhibit intellectual disabilities.
Genetics
Lenz Microphthalmia Syndrome is an X-linked recessive genetic disorder, meaning it is caused by mutations in a gene on the X chromosome. The specific gene associated with this syndrome is the BCOR gene.
Diagnosis
Diagnosis of Lenz Microphthalmia Syndrome is typically based on the presence of characteristic physical features. Genetic testing can confirm the diagnosis by identifying a mutation in the BCOR gene.
Treatment
There is currently no cure for Lenz Microphthalmia Syndrome. Treatment is symptomatic and supportive, and may include surgical intervention for eye and dental abnormalities, as well as physical and occupational therapy for individuals with physical and intellectual disabilities.
See Also
External links
- Medical encyclopedia article on Lenz microphthalmia syndrome
- Wikipedia's article - Lenz microphthalmia syndrome
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