Penoscrotal inversion, hypospadias, imperforate anus, facial anomalies, and developmental delay: definition of a new clinical syndrome

Pediatr Surg Int. 2000;16(5-6):396-9. doi: 10.1007/s003830000379.


We describe a 2-month-old boy with penoscrotal inversion, hypospadias, imperforate anus, facial anomalies, developmental retardation, and a subtelomeric deletion of chromosome 13q. His phenotype with anogenital malformations and characteristic facies closely resembled two unrelated patients with minute deletions of chromosome 13q who we reported earlier. In addition, he had unilateral renal agenesis. We propose that these patients represent a clinically recognizable, novel chromosomal microdeletion syndrome. The findings indicate the presence of a major gene(s) on chromosome 13q33.2qter that regulate(s) the migration and development of ano-reno-genital cells and organs. We speculate that mutations of this developmental gene(s) may also result in more frequent congenital malformations (isolated hypospadias, uterus bicornis, unilateral renal agenesis). Additional studies are needed to further delineate the genetic defect.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Anus, Imperforate / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13 / genetics*
  • Craniofacial Abnormalities / genetics*
  • DNA Mutational Analysis
  • Developmental Disabilities / genetics*
  • Humans
  • Hypospadias / genetics*
  • Infant
  • Karyotyping
  • Male
  • Penis / abnormalities*
  • Scrotum / abnormalities*