Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Hand-Foot-Genital Syndrome

System/ConcernEvaluationComment
Musculoskeletal Physical exam & radiographs of hands & feetTo evaluate for abnormalities that may affect function
Renal Urologic assessment of bladder, ureter function, urethral competence & positionIncl renal ultrasound & VCUG for UPJ obstruction
Gynecologic
  • Gynecologic exam prior to menstruation or pregnancy.
  • Eval may incl ultrasound, hysterosalpingogram, hysteroscopy, sonohysterogram, MRI, or other imaging studies.
  • For evidence of incomplete müllerian fusion, longitudinal vaginal septum, or extremely small hymenal opening
  • Such studies could be accomplished at the same time as urologic imaging.
Other Consultation w/clinical geneticist &/or genetic counselor

UPJ = ureteropelvic junction; VCUG = voiding cystourethrogram

From: Hand-Foot-Genital Syndrome

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