Living with Frank-Ter Haar syndrome
A rare inherited condition with bone differences, developmental delay, and distinctive facial features such as large corneas.
Understanding Frank-Ter Haar syndrome
Facial features include unusually large corneas, a flattened back of the head, wide soft spots (fontanels), a prominent forehead, widely spaced and prominent eyes, full cheeks, and a small chin. Protruding ears, a prominent tailbone, and heart defects are also common. It begins before or at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay
- Bone differences in the hands and spine
- Bone breakdown (osteolysis)
- Wide, prominent forehead
- Gum overgrowth and delayed tooth eruption
- Heart defects
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 and genetic specialists.
- 3Consider genetic testing
Changes in SH3PXD2B are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- 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 FACES: The National Craniofacial 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 the SH3PXD2B gene cause it. It is thought to be autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: borrone dermatocardioskeletal syndrome; borrone di rocco crovato syndrome; melnick-needles syndrome, autosomal recessive; ter haar syndrome
Patient organizations
- FACES: The National Craniofacial AssociationFrank-Ter Haar syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Frank-Ter Haar syndrome.
Explore research for Frank-Ter Haar 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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