Living with Hypertrichotic osteochondrodysplasia Cantu type
A rare genetic condition with extra hair growth, coarse facial features, and heart differences, seen from birth.
Understanding Hypertrichotic osteochondrodysplasia Cantu type
People have thick scalp hair that extends onto the forehead and cheeks, and extra body hair. Most have a large head and coarse facial features. Many babies are born with a heart difference such as an enlarged heart or patent ductus arteriosus (PDA). Other features include bone differences, large size at birth, less fat under the skin, and deep creases in the palms and soles. Features vary among people.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Excess hair growth (hypertrichosis)
- Coarse facial features
- Large head (macrocephaly)
- Enlarged heart (cardiomegaly)
- Bone and rib differences
- Mild intellectual disability
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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in ABCC9 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Cantu Syndrome Interest Group may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Cantu Syndrome Interest Group
- 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 Cantu Syndrome Interest Group
- 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 the ABCC9 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: cantu syndrome; cantu's syndrome; cantú syndrome; congenital hypertrichosis-acromegaloid facial features spectrum; congenital hypertrichosis-coarse facial features spectrum; hypertrichotic osteochondrodysplasia
Patient organizations
- Cantu Syndrome Interest GroupHypertrichotic osteochondrodysplasia Cantu type · United States
You are more than your diagnosis
Perspectives from people navigating life with Hypertrichotic osteochondrodysplasia Cantu type.
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