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Penile agenesis
Disease definition
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.
ORPHA:49
- Synonym(s):
- Aphallia
- Penis agenesis
- Prevalence: <1 / 1 000 000
- Inheritance: -
- Age of onset: Antenatal, Neonatal
- ICD-10: Q55.5
- OMIM: -
- UMLS: C1387005
- MeSH: C536649
- GARD: 4272
- MedDRA: -
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