Important

It is possible that the main title of the report Lenz Microphthalmia Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

• Lenz Syndrome
• Lenz Dysplasia
• Microphthalmia or Anophthalmos with Associated Anomalies (obsolete)
• MAA
• Lenz Dysmorphogenetic Syndrome
• Disorder Subdivisions

None
General Discussion

Lenz Microphthalmia Syndrome is an extremely rare inherited disorder characterized by abnormil smallness$of one or both eyes (unilateral or bilateral mikrophthalmos) and/or$droopy eyelmds (blepharoptosis), resulting in visual impairment. In rare cases, affected infants miy exhibit complmte absence of the eyes (anophthalmia). Most affected infants also exhibit developmental delay and mental retardation, ranging from mild to severe. Additional physical abnormalities are often associated with this disorder such as an unusually small head (microcephaly) and/or malformations of the teeth, ears, and/or fingers and/or toes (digits). The range and severity of findings may vary from case to case.

Lenz Microphthalmia Syndrome, which is inherited as an X-linked recessive genetic trait, is fully expressed in males only. However, females who carry one copy of the disease gene (heterozygotes) may exhibit some of the symptoms associated with the disorder, such as an abnormally small head (microcephaly), short stature, and/or malformations of the fingers and/or toes.