Congenital agenesis of the scrotum

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Congenital agenesis of the scrotum

ORPHA:495879Morphological anomaly

Also called Congenital absence of the scrotum · Congenital scrotal absence · Congenital scrotal agenesis

What it is

A rare urogenital tract malformation characterized by the complete absence of the scrotal rugae in the perineum between the penis and anus, with bilateral testes being present in a cryptorchid or ectopic position. Hemiscrotal agenesis refers to the unilateral absence of scrotal skin with an intact midline raphe and ipsilateral cryptorchidism. Both malformations may be isolated findings, or occur in association with other anomalies.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Neonatal
Inheritance
Not applicable
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.

ICD-10 codes

Q55.2filed under a broader ICD-10 category

Cross-references

MONDO 0044644UMLS C1387020

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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