Rare diseases · Sign or symptom
Hypospadias
HP:0000047
What it means
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Rare diseases that can present with this189
Very common80–99%
25- 19q13.11microdeletion syndrome
- 46,XX ovotesticular difference of sex development
- 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
- 46,XY difference of sex development due to isolated 17,20-lyase deficiency
- 46,XY partial gonadal dysgenesis
- Abruzzo-Erickson syndrome
- Biemond syndrome type 2
- Craniosynostosis-anal anomalies-porokeratosis syndrome
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
- Hypertelorism-hypospadias-polysyndactyly syndrome
- Hypospadias-intellectual disability, Goldblatt type syndrome
- IMAGe syndrome
- Intellectual disability, Wolff type
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
- Leydig cell hypoplasia
- Lower limb malformation-hypospadias syndrome
- N syndrome
- Penoscrotal transposition
- Progeria-short stature-pigmented nevi syndrome
- Proximal Xq28 duplication syndrome
- Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
- Ring chromosome 7 syndrome
- Spina bifida-hypospadias syndrome
- Triploidy syndrome
- Wolf-Hirschhorn syndrome
Common30–79%
55- 10q22.3q23.3microduplication syndrome
- 45,X/46,XY mixed gonadal dysgenesis
- 8p23.1microdeletion syndrome
- Acrocardiofacial syndrome
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Basel-Vanagaite-Smirin-Yosef syndrome
- Cardiocranial syndrome, Pfeiffer type
- Cerebello-oculo-facio-genital syndrome
- Cleft palate-large ears-small head syndrome
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
- Congenital heart defect-round face-developmental delay syndrome
- Cornelia de Lange syndrome
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- Cryptorchidism-arachnodactyly-intellectual disability syndrome
- Cystic fibrosis-gastritis-megaloblastic anemia syndrome
- Diethylstilbestrol syndrome
- Diphallia
- Distal deletion 15q syndrome
- Distal deletion 9p syndrome
- Distal duplication 5q syndrome
- Dubowitz syndrome
- Duplication of urethra
- Ellis-Van Creveld syndrome
- Fetal trimethadione syndrome
- FG syndrome type 1
- Genitopalatocardiac syndrome
- Hand-foot-genital syndrome
- Harrod syndrome
- Holoprosencephaly-postaxial polydactyly syndrome
- Juberg-Hayward syndrome
- Koolen-De Vries syndrome
- Lambert syndrome
- Lenz-Majewski hyperostotic dysplasia
- Lethal hemolytic anemia-genital anomalies syndrome
- Methimazole embryofetopathy
- Microcephaly-cervical spine fusion anomalies syndrome
- Microphthalmia, Lenz type
- Monosomy 9p syndrome
- Mosaic trisomy 14 syndrome
- Mowat-Wilson syndrome
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
- Opitz GBBB syndrome
- Otopalatodigital syndrome type 2
- Partial androgen insensitivity syndrome
- Peters plus syndrome
- Renpenning syndrome
- Ring chromosome 13 syndrome
- Ring chromosome Y syndrome
- SERKAL syndrome
- Silver-Russell syndrome due to a point mutation
- Smith-Lemli-Opitz syndrome
- TMEM70-related mitochondrial encephalo-cardio-myopathy
- X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Hypospadia
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.