acro-renal-mandibular syndrome
Findings
No curated finding names acro-renal-mandibular syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.
Definition from the Mondo Disease Ontology (MONDO:0008707), read 2026-09-29. CC BY 4.0.
Features
37 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.
- Hypoplasia of the radiusHPOHP:0002984
- Very frequent (80% to 99% of cases)
- Hypoplasia of the ulnaHPOHP:0003022
- Very frequent (80% to 99% of cases)
- Renal hypoplasia/aplasiaHPOHP:0008678
- Very frequent (80% to 99% of cases)
- Rudimentary fibulaHPOHP:0006381
- Very frequent (80% to 99% of cases)
- Rudimentary to absent tibiaeHPOHP:0006426
- Very frequent (80% to 99% of cases)
- Split footHPOHP:0001839
- Very frequent (80% to 99% of cases)
- Split hand
Show the remaining 25
- Hypoplasia of the zygomatic boneHPOHP:0010669
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- OligohydramniosHPOHP:0001562
- Frequent (30% to 79% of cases)
- Pectus carinatumHPOHP:0000768
- Frequent (30% to 79% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: acro-renal-mandibular syndrome
- Also called
- split hand/split foot-mandibular hypoplasia syndrome