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Start free with EleplanPenile agenesis
ORPHA:49Morphological anomaly
Also called Aphallia · Penis agenesis
What it is
Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Classified as
- Morphological anomaly
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
18- Abnormality of the bladder
- Absent penisPathognomonic sign
- Ambiguous genitalia
- Anal atresia
- Anorectal anomaly
- Bilateral renal hypoplasia
- Cloacal abnormality
- Depressed nasal bridge
- Fetal pyelectasis
- Hydronephrosis
- Hydroureter
- Oligohydramnios
- Posteriorly rotated ears
- Pulmonary hypoplasia
- Rectal fistula
- Short nose
- Unilateral renal hypoplasia
- Urethral fistula
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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