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Lenz Microphthalmia Syndrome

Abstract

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NORD is very grateful to John M. Opitz, MD, Department of Human Genetics, University of Utah School of Medicine, for assistance in the preparation of this report.

Synonyms of Lenz Microphthalmia Syndrome

  • Lenz dysmorphogenetic syndrome
  • Lenz dysplasia
  • Lenz syndrome
  • MAA
  • microphthalmia or anophthalmos with associated anomalies (obsolete)

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Lenz Microphthalmia syndrome is an extremely rare inherited disorder characterized by abnormal smallness of one or both eyes (unilateral or bilateral microphthalmos) and/or droopy eyelids (blepharoptosis), resulting in visual impairment. In rare cases, affected infants may exhibit complete 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.

BCOR (MAA2 locus) is the only gene known to be associated with this syndrome.

Organizations related to Lenz Microphthalmia Syndrome

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., visual handicaps, mental retardation, etc.].)

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