Living with Braddock syndrome
A very rare syndrome described in two siblings, with multiple birth differences, lung blood pressure, and normal intellect.
Understanding Braddock syndrome
It resembles the VACTERL association (a pattern of spine, anus, heart, windpipe, kidney, and limb differences) plus high blood pressure in the lung blood vessels, webs in the voice box (laryngeal webs), bluish whites of the eyes, abnormal ears, and long-lasting slow growth. Intellect is normal. It is seen in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- High blood pressure in lung vessels (pulmonary hypertension)
- Web in the voice box (laryngeal web)
- Breathing trouble in newborns
- Missing kidney on one side
- Differences in spine bones and ribs
- Slow growth and weight gain
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists, genetic specialists and lung and breathing specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Phaware Global Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency; vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency
Patient organizations
- Phaware Global AssociationBraddock syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Braddock syndrome.
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