Holzgreve-Wagner-Rehder syndrome
MONDO:0009350Mondo
Findings
No curated finding names Holzgreve-Wagner-Rehder syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects.
Definition from the Mondo Disease Ontology (MONDO:0009350), read 2026-09-29. CC BY 4.0.
Features
21 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 cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the lungsHPOHP:0006703
- Very frequent (80% to 99% of cases)
- Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
- Hand polydactylyHPOHP:0001161
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- OligohydramniosHPOHP:0001562
- Very frequent (80% to 99% of cases)
- Renal hypoplasia/aplasiaHPOHP:0008678
- Very frequent (80% to 99% of cases)
- Abnormal mesentery morphologyHPOHP:0100016
- Frequent (30% to 79% of cases)
- Abnormal metacarpal morphologyHPOHP:0005916
- Frequent (30% to 79% of cases)
- Abnormal morphology of ulnaHPOHP:0040071
- Frequent (30% to 79% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Frequent (30% to 79% of cases)
- Abnormally ossified vertebraeHPOHP:0100569
- Frequent (30% to 79% of cases)
Show the remaining 9
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the tongueHPOHP:0010295
- Frequent (30% to 79% of cases)
- Bifid tongueHPOHP:0010297
- Frequent (30% to 79% of cases)
- Joint stiffnessHPOHP:0001387
- Frequent (30% to 79% of cases)
- MacrotiaHPOHP:0000400
- Frequent (30% to 79% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: Holzgreve-Wagner-Rehder syndrome
- Also called
- cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndromeHolzgreve syndrome