Rare diseases · Sign or symptom
Cryptorchidism
Undescended testes
HP:0000028
What it means
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
The gonad is mobile and can be retracted superiorly by the cremaster muscle reflex stimulated, for instance, by cold or touch. A retracted testis is not cryptorchidism. An abdominal testis cannot be distinguished by physical examination from an (Apparently) absent testis and requires radiological (or, rarely, surgical) procedures for assessment.
Rare diseases that can present with this430
Very common80–99%
79- 14q22q23microdeletion syndrome
- 3q13microdeletion syndrome
- 45,X/46,XY mixed gonadal dysgenesis
- 46,XX ovotesticular difference of sex development
- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
- 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
- 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
- 7p22.1microduplication syndrome
- 8p11.2deletion syndrome
- 8q22.1microdeletion syndrome
- 9q21.13microdeletion syndrome
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome
- Aromatase deficiency
- Autosomal dominant omodysplasia
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- Beemer-Ertbruggen syndrome
- Blepharophimosis-intellectual disability syndrome, Ohdo type
- Blepharophimosis-intellectual disability syndrome, SBBYS type
- Borjeson-Forssman-Lehmann syndrome
- BRESEK syndrome
- Carpenter syndrome
- Cerebello-oculo-facio-genital syndrome
- CHARGE syndrome
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- C syndrome
- Diabetic embryopathy
- Diethylstilbestrol syndrome
- Distal deletion 10p syndrome
- Distal duplication 15q syndrome
- Distal duplication 18q syndrome
- Ear-patella-short stature syndrome
- Facial dysmorphism-shawl scrotum-joint laxity syndrome
- Fetal minoxidil syndrome
- Filippi syndrome
- Frontonasal dysplasia-alopecia-genital anomalies syndrome
- Genitopatellar syndrome
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- IMAGe syndrome
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- Intellectual disability-polydactyly-uncombable hair syndrome
- KDM5C-related syndromic X-linked intellectual disability
- Leydig cell hypoplasia
- MEHMO syndrome
- Microcephalic primordial dwarfism, Montreal type
- Micro syndrome
- Mosaic trisomy 9 syndrome
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- Musculocontractural Ehlers-Danlos syndrome
- Normosmic congenital hypogonadotropic hypogonadism
- N syndrome
- Paternal uniparental disomy of chromosome 6 syndrome
- Persistent Müllerian duct syndrome
- Prader-Willi syndrome
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
- Prader-Willi syndrome due to paternal 15q11q13 deletion
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- Primary hypergonadotropic hypogonadism-partial alopecia syndrome
- Prominent glabella-microcephaly-hypogenitalism syndrome
- Proximal Xq28 duplication syndrome
- Prune belly syndrome
- Recombinant 8 syndrome
- Ring chromosome Y syndrome
- Schaaf-Yang syndrome
- Short stature-wormian bones-dextrocardia syndrome
- SIM1-related Prader-Willi-like syndrome
- Simpson-Golabi-Behmel syndrome
- Sudden infant death-dysgenesis of the testes syndrome
- Tetragametic chimerism syndrome
- Thrombocytopenia with congenital dyserythropoietic anemia
- Triploidy syndrome
- Trisomy 18 syndrome
- Verloove Vanhorick-Brubakk syndrome
- Wilson-Turner syndrome
- Wrinkly skin syndrome
- X-linked alpha-thalassemia-intellectual disability syndrome
- X-linked intellectual disability, Cilliers type
- X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
- X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature 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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Cryptorchism · Undescended testis
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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.