Lenz microphthalmia syndrome
Lenz microphthalmia syndrome is a condition characterized by abnormal development of the eyes and several other parts of the body. It occurs almost exclusively in males.
The eye abnormalities associated with Lenz microphthalmia syndrome can affect one or both eyes
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Symptoms of Lenz microphthalmia syndrome
Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms
- Aplasia ...
Genetics of Lenz microphthalmia syndrome
Mutations in at least two genes on the X chromosome are thought to be responsible for Lenz microphthalmia syndrome . Only one of these genes, BCOR , has been identified.
The BCOR gene provides instructions for making a protein called
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Names and Terminology
Other Names for This Condition
- Lenz dysmorphogenic syndrome
- Lenz dysplasia
- Lenz syndrome
- microphthalmia or anophthalmos with associated anomalies
- microphthalmia, syndromic 1
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- Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ lenz-microphthalmia-syndrome
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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.