Congenital anomalies of the genitalia

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Congenital anomaly of the genitalia is a medical term referring to any physical difference from a typical male or female internal or external genitalia present at birth. This is a broad category of conditions, some common and some rare.


Some result from excessive or deficient androgen effect, others result from teratogenic (chemical substances that affect fetal development) effects, or are associated with anomalies of other parts of the body in a recognizable pattern (i.e., a syndrome). The cause of many of these birth defects is unknown. Some simply represent the extremes of the normal range of size for body parts.


  • Ambiguous genitalia - a large clitoris or small penis.
  • Cryptorchidism - absence of one or both testes from the scrotum. This includes undescended testes.
  • Hypospadias - an atypically placed urinary meatus (opening).
  • Chordee - a condition in which the head of the penis curves downward (that is, in a ventral direction) or upward, at the junction of the head and shaft of the penis.
  • Micropenis - an unusually small penis. Sometimes defined as being 2.5 times the standard deviation smaller than the mean size.
  • Clitoromegaly - an atypical enlargement of the clitoris (not to be confused with the expected enlargement of the clitoris seen during sexual arousal).
  • Aphallia - the phallus (penis or clitoris) is congenitally absent. 75 cases are known worldwide as of 2005.
  • Diphallia, penile duplication (PD), Diphallic Terata, or Diphallasparatus, is a medical condition in which a male infant is born with two penises.
  • Cloacal exstrophy - a severe birth defect wherein much of the abdominal organs (the bladder and intestines) are exposed.
  • Bladder exstrophy, exstrophy-epispadias complex - a spectrum of anomalies of the lower abdominal wall, bladder, anterior bony pelvis, and external genitalia.
  • Imperforate hymen - the hymen fails to develop an opening.
  • Müllerian agenesis - a condition in a female where the Müllerian ducts fail to develop and a uterus will not be present.


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