Robinow syndrome: Genital analysis, genetic heterogeneity, and associated psychological impact

Jonathan A. Gerber, Kunj R. Sheth, Paul F. Austin

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


Robinow syndrome (RS) is a rare, pleiotropic genetic disorder. While it has been reported that males with Robinow syndrome may have genitourinary atypicalities, these have not been systematically studied. We hypothesized that the underlying gene involved plays a role in the clinical variability of associated genital findings and that the phenotypic appearance of the genitalia in RS may have a psychological impact. Urologic-specific examination consisted of detailed examination and a questionnaire to investigate the psychological impact of the genital phenotype. Nine males agreed to a full evaluation. Average age was 19.9 years, penile length was 32.5 mm, stretched length 53 mm, and width 24.4 mm. Penile transposition occurred in all 9 male who allowed full examination. Undescended testicles were noted in 4/10, testicular atrophy in 5/9, buried penis in 7/9, hypospadias in 5/8, and a large penopubic gap (space between dorsum of penis base and pubic bone) in 5/6. In this cohort, 78% answered our semi-quantitative pilot questionnaire that identified diminished sexuality, sexual function, and self-perception. In conclusion, RS has unique, hallmark genital findings including penile transposition, buried penis, undescended testes, and large penopubic gaps. Genital phenotype in males was not shown to correlate with the specific gene involved for each patient. Surgical approaches and other interventions should be studied to address the findings of decreased sexuality and self-perception. It is the authors' opinion that intervention to provide the appearance of penile lengthening be postponed until puberty to allow for maximal natural phallic growth.

Original languageEnglish (US)
Pages (from-to)3601-3605
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number12
StatePublished - Dec 2021


  • Robinow syndrome
  • genetic heterogeneity
  • genitalia
  • penis
  • urology

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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