acrorenal syndrome
Findings
No curated finding names acrorenal syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.
Definition from the Mondo Disease Ontology (MONDO:0007059), read 2026-09-29. CC BY 4.0.
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal renal morphologyHPOHP:0012210
- Very frequent (80% to 99% of cases)
- Renal hypoplasia/aplasiaHPOHP:0008678
- Very frequent (80% to 99% of cases)
- Split handHPOHP:0001171
- Very frequent (80% to 99% of cases)
- Abnormal morphology of ulnaHPOHP:0040071
- Frequent (30% to 79% of cases)
- Abnormal tibia morphologyHPOHP:0002992
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the radiusHPOHP:0006501
- Frequent (30% to 79% of cases)
Where it sits
- Narrower terms (1)