Rare diseases · Sign or symptom
Small scrotum
Smaller than typical growth of scrotum
HP:0000046
What it means
Apparently small scrotum for age.
A small scrotum is often accompanied by Cryptorchidism which should be coded separately. The size of the scrotum is dependent on the ambient temperature: a low temperature may cause the testes to retract, leading to the false impression of a small scrotum.
Rare diseases that can present with this39
Very common80–99%
10- 14q22q23microdeletion syndrome
- 46,XX ovotesticular difference of sex development
- 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
- Blepharophimosis-intellectual disability syndrome, Ohdo type
- Borjeson-Forssman-Lehmann syndrome
- Difference of sex development-intellectual disability syndrome
- Genitopatellar syndrome
- Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
- Prominent glabella-microcephaly-hypogenitalism syndrome
- Sudden infant death-dysgenesis of the testes syndrome
Common30–79%
19- 48,XXXY syndrome
- 49,XXXXY syndrome
- Autosomal dominant popliteal pterygium syndrome
- Cleft lip/palate-ectodermal dysplasia syndrome
- Flat face-microstomia-ear anomaly syndrome
- Fraser syndrome
- Frontonasal dysplasia-alopecia-genital anomalies syndrome
- Multiple pterygium-malignant hyperthermia 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
- Recombinant 8 syndrome
- Schaaf-Yang syndrome
- SIM1-related Prader-Willi-like syndrome
- STT3A-CDG
- STT3B-CDG
- Tetraamelia-multiple malformations syndrome
Sometimes5–29%
9- 9q33.3q34.11microdeletion syndrome
- Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- Autosomal recessive multiple pterygium syndrome
- Congenital multicore myopathy with external ophthalmoplegia
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- Multiple benign circumferential skin creases on limbs
- Robinow syndrome
- Treacher-Collins syndrome
and 1 more in this range
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: Hypoplastic scrotum · Scrotal hypoplasia · Underdeveloped scrotum
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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.