Rare diseases · Sign or symptom
Multicystic kidney dysplasia
HP:0000003
What it means
Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional.
Multicystic kidney dysplasia is the result of abnormal fetal renal development in which the affected kidney is replaced by multiple cysts and has little or no residual function. The vast majority of multicystic kidneys are unilateral. Multicystic kidney can be diagnosed on prenatal ultrasound.
Rare diseases that can present with this57
Very common80–99%
13- 17q12microdeletion syndrome
- Campomelia, Cumming type
- Cystic hamartoma of lung and kidney
- Fryns syndrome
- Genitopatellar syndrome
- HNF1B-related autosomal dominant tubulointerstitial kidney disease
- Meckel syndrome
- Multicystic dysplastic kidney
- NPHP3-related Meckel-like syndrome
- Radio-renal syndrome
- Simpson-Golabi-Behmel syndrome
- Thomas syndrome
- Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
Common30–79%
16- 46,XX difference of sex development-anorectal anomalies syndrome
- Cornelia de Lange syndrome
- Harrod syndrome
- Hepatic fibrosis-renal cysts-intellectual disability syndrome
- Megacystis-microcolon-intestinal hypoperistalsis syndrome
- Microgastria-limb reduction defect syndrome
- Multinodular goiter-cystic kidney-polydactyly syndrome
- PAGOD syndrome
- Prune belly syndrome
- Radioulnar synostosis-developmental delay-hypotonia syndrome
- Renal coloboma syndrome
- Renal dysplasia
- RHYNS syndrome
- Tetraamelia-multiple malformations syndrome
- Trisomy 1q 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
Also called: Multicystic dysplastic kidney · Multicystic kidneys · Multicystic renal dysplasia
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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.