Rare diseases · Sign or symptom
Renal hypoplasia/aplasia
Absent/small kidney
HP:0008678
What it means
Absence or underdevelopment of the kidney.
Rare diseases that can present with this69
Very common80–99%
14- Acro-renal-mandibular syndrome
- Acrorenal syndrome
- Axial mesodermal dysplasia spectrum
- Diabetic embryopathy
- Fraser syndrome
- Holzgreve syndrome
- Multifocal infantile hemangioma with extracutenous involvement
- Radio-renal syndrome
- Ring chromosome 10 syndrome
- Short stature-wormian bones-dextrocardia syndrome
- Sirenomelia
- Thomas syndrome
- Trisomy 5p syndrome
- VACTERL with hydrocephalus
Common30–79%
15- 46,XX difference of sex development-anorectal anomalies syndrome
- Acro-renal-ocular syndrome
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
- BOR syndrome
- Cat-eye syndrome
- Caudal duplication
- Congenital unilateral hypoplasia of depressor anguli oris
- EEC syndrome
- Lethal hemolytic anemia-genital anomalies syndrome
- Microcephaly-cardiac defect-lung malsegmentation syndrome
- Microphthalmia, Lenz type
- Oculoauriculovertebral spectrum with radial defects
- PAGOD syndrome
- Renal dysplasia
- XY type gonadal dysgenesis-associated anomalies 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: Absent/underdeveloped kidney · Renal agenesis/hypoplasia · Renal aplasia/hypoplasia
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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.