PHAVER syndrome
MONDO:0009859Mondo
Findings
No curated finding names PHAVER syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Phaver syndrome is a very rare syndrome characterized by the association of limb Pterygia, Heart anomalies, Autosomal recessive inheritance, Vertebral defects, Ear anomalies and Radial defects.
Definition from the Mondo Disease Ontology (MONDO:0009859), read 2026-09-29. CC BY 4.0.
Features
26 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 rib morphologyHPOHP:0000772
- Very frequent (80% to 99% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- Butterfly vertebraeHPOHP:0003316
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- PterygiumHPOHP:0001059
- Very frequent (80% to 99% of cases)
- Ulnar deviation of fingerHPOHP:0009465
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the earlobesHPOHP:0009906
- Frequent (30% to 79% of cases)
- Broad hallux phalanxHPOHP:0010059
- Frequent (30% to 79% of cases)
- Broad thumbHPOHP:0011304
- Frequent (30% to 79% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
Show the remaining 14
- Coarctation of aortaHPOHP:0001680
- Frequent (30% to 79% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Frequent (30% to 79% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Hypoplastic aortic archHPOHP:0012304
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: PHAVER syndrome
- Also called
- Powell-Chandra-Saal syndrome