Non-syndromic posterior hypospadias

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Non-syndromic posterior hypospadias

ORPHA:95706Morphological anomaly

Also called Hypospadias, severe form · Perineal, scrotal or penoscrotal hypospadias

What it is

A rare, non-syndromic, congenital, urogenital tract malformation affecting males and characterized by penoscrotal, scrotal or perineal displacement of the urethral meatus, and commonly associated with curvation of the penis. The scrotum might appear bifid in severe cases, and the boy can also have a micropenis.

Key facts

Prevalence
1-5 / 10 000 (at birth, Europe)
Age of onset
Antenatal, Neonatal
Inheritance
Multigenic/multifactorial, X-linked recessive
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

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.

Genes

MAMLD1Disease-causing germline mutation(s)
ARCandidate gene tested

ICD-10 codes

Q54.2ICD-10 uses a narrower term
Q54.3ICD-10 uses a narrower term

Cross-references

MONDO 0019848OMIM 146450OMIM 300633OMIM 300758OMIM 300856UMLS C5231010

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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