Living with Six2-related frontonasal dysplasia
A rare genetic condition that changes the shape of the forehead, nose and eyes, and sometimes the skull.
Understanding Six2-related frontonasal dysplasia
Facial features include a prominent forehead with a high hairline, drooping eyelids, widely spaced eyes, a flat nasal bridge and a broad nose tip. A large soft spot, early closing of skull sutures and skull base differences have also been described. It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Prominent forehead (frontal bossing)
- Widely spaced eyes
- Drooping upper eyelids (ptosis)
- Flat nasal bridge and broad nose tip
- Large head (macrocephaly)
- Short stature
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
GARD says changes in genes cause this condition, and the name points to the SIX2 gene. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene is enough.
Also known as: six homeobox 2-related frontonasal dysplasia; six2-related fnd
Patient organizations
- FACES: The National Craniofacial AssociationSix2-related frontonasal dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Six2-related frontonasal dysplasia.
Explore research for Six2-related frontonasal dysplasia
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- Eligibility is confirmed by the study team
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