Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome

Am J Med Genet. 2001 Jan 1;98(1):92-100.


Lenz microphthalmia syndrome is a rare X-linked recessive condition first described by Lenz in 1955 and comprises of anophthalmia, microcephaly, mental retardation, external ear, digital, cardiac, skeletal, and urogenital anomalies. We present three brothers (ages 15 years, 9 years, and 18 months) and a maternal uncle (age 27 years) with congenital anophthalmia, delayed motor development, hypotonia, and moderate to severe mental retardation. They also have abnormally modeled ears, high-arched palate, pectus excavatum, finger and toe syndactyly, clinodactyly, fetal pads, scoliosis, cardiac, and renal abnormalities. An obligate carrier had abnormally modeled ears and syndactyly of the 2nd to 3rd toes bilaterally. Linkage and haplotype analysis in this family indicates that the gene is located in a 17.65-cM region on chromosome region Xq27-Xq28.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Abnormalities, Multiple* / genetics
  • Adolescent
  • Adult
  • Child
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics
  • Family Health
  • Genetic Linkage
  • Haplotypes
  • Heterozygote
  • Humans
  • Infant
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics
  • Lod Score
  • Male
  • Microphthalmos / diagnosis*
  • Microphthalmos / genetics*
  • Pedigree
  • Physical Chromosome Mapping
  • X Chromosome / genetics