Living with Verloove Vanhorick-Brubakk syndrome
A very rare inherited condition present at birth that affects bones, heart, lungs, kidneys, and the face.
Understanding Verloove Vanhorick-Brubakk syndrome
GARD lists differences in the bones of the arms, legs, hands, and feet, a heart difference, lung and kidney differences, and cleft lip and palate with a small jaw and small, low-set ears. GARD says there have been no further descriptions in medical writing since 1981.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short or missing limb bones
- Joined fingers or toes
- Heart differences
- Cleft lip and palate
- Small lower jaw
- Small, low-set ears
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 ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- 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 World Craniofacial Foundation and other patient organizations
- 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
GARD says a child inherits a changed copy of a gene from each parent (autosomal recessive). It doesn't name the gene.
Also known as: cleft lip-limb and heart malformations syndrome; cleft lip, limb and heart malformation syndrome; cleft-limb-heart malformation syndrome syndrome; clh syndrome; verloove vanhorick brubakk syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Verloove Vanhorick-Brubakk syndrome.
Explore research for Verloove Vanhorick-Brubakk syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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