| Bardet-Biedl syndrome | Retinitis pigmentosa, postaxial polydactyly, endocrine anomalies, nephropathy, mental impairment |
| Imperforate hymen | Complete obstruction of the vaginal introitus by the epithelialized tissue that forms the hymen; varied presentation |
| Hematocolpos | Distension of vagina or uterus secondary to menstrual blood accumulation; most common in pubertal girls with primary amenorrhea and abdominal pain; purple vaginal mass may be present |
| Hydrometrocolpos | Distension of vagina (hydrocolpos) and uterus caused by obstruction of the drainage of genital secretions; pelvic ultrasonography shows dilatation |
| McKusick-Kaufman syndrome | Hydrometrocolpos, postaxial polydactyly, congenital heart defects |