Braddock syndrome
MONDO:0012032Mondo
Findings
No curated finding names Braddock syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.
Definition from the Mondo Disease Ontology (MONDO:0012032), read 2026-09-29. CC BY 4.0.
Features
24 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.
- Blue scleraeHPOHP:0000592
- Very frequent (80% to 99% of cases)
- HemivertebraeHPOHP:0002937
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- Laryngeal webHPOHP:0005950
- Very frequent (80% to 99% of cases)
- Missing ribsHPOHP:0000921
- Very frequent (80% to 99% of cases)
- Overfolded helixHPOHP:0000396
- Very frequent (80% to 99% of cases)
- Pectus excavatumHPOHP:0000767
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
- Pulmonary arterial hypertensionHPOHP:0002092
- Very frequent (80% to 99% of cases)
- Pulmonary fibrosisHPOHP:0002206
- Very frequent (80% to 99% of cases)
- Abnormal hair patternHPOHP:0010720
- Frequent (30% to 79% of cases)
- BlepharophimosisHPOHP:0000581
- Frequent (30% to 79% of cases)
Show the remaining 12
- Congenital muscular torticollisHPOHP:0005988
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- HypotelorismHPOHP:0000601
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- Neonatal respiratory distressHPOHP:0002643
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: Braddock syndrome
- Also called
- Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency