Rare diseases · Sign or symptom
Hydronephrosis
HP:0000126
What it means
Severe distention of the kidney with dilation of the renal pelvis and calices.
Hydronephrosis can be caused by reflux or by retrograde pressure on the kidney when the flow of urine is obstructed.
Rare diseases that can present with this148
Very common80–99%
11- 15q overgrowth syndrome
- 9q21.13microdeletion syndrome
- Congenital primary megaureter
- Diabetic embryopathy
- Genitopatellar syndrome
- IMAGe syndrome
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Müllerian derivatives-lymphangiectasia-polydactyly syndrome
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- Penile agenesis
- Ring chromosome 8 syndrome
Common30–79%
39- 2p15p16.1microdeletion syndrome
- 46,XX difference of sex development-anorectal anomalies syndrome
- 6p22microdeletion syndrome
- Atresia of urethra
- Axial mesodermal dysplasia spectrum
- Baraitser-Winter cerebrofrontofacial syndrome
- Cat-eye syndrome
- Congenital megacalycosis
- Czeizel-Losonci syndrome
- Distal triplication 15q syndrome
- EEC syndrome
- Erdheim-Chester disease
- Frontometaphyseal dysplasia
- Hypoparathyroidism-sensorineural deafness-renal disease syndrome
- IgG4-related retroperitoneal fibrosis
- Intellectual disability, Buenos-Aires type
- Junctional epidermolysis bullosa with pyloric atresia
- McKusick-Kaufman syndrome
- Melnick-Needles syndrome
- Microphthalmia, Lenz type
- Mosaic trisomy 8 syndrome
- Nephrosis-deafness-urinary tract-digital malformations syndrome
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
- Otopalatodigital syndrome type 2
- Pelvis-shoulder dysplasia
- Posterior urethral valve
- Prominent glabella-microcephaly-hypogenitalism syndrome
- Schinzel-Giedion syndrome
- Short rib-polydactyly syndrome, Verma-Naumoff type
- Simpson-Golabi-Behmel syndrome
- Thakker-Donnai syndrome
- Toluene embryopathy
- Trisomy 13 syndrome
- Trisomy 17p syndrome
- Trisomy 18 syndrome
- Urofacial syndrome
- Wiedemann-Rautenstrauch syndrome
- Zellweger 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
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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.