Living with Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
A rare syndrome with distinct facial and nose differences, plus hand and arm differences, from newborn age.
Understanding Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
Features include wide-set eyes, almond-shaped eyes, a nose that is split or has an absent tip, and downturned corners of the mouth. Limb differences such as Poland anomaly, bent fingers, fewer fingers or fused fingers can occur. Others reported include an encephalocele, a blocked rear nasal passage, and kidney, heart or brain differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Wide-set eyes
- Nose with a split or missing tip
- Wide nasal bridge
- Hand and arm differences
- Curved little fingers (clinodactyly)
- Facial asymmetry
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
Changes in genes cause it. GARD doesn't name a gene or describe how it is inherited.
Also known as: frontonasal dysplasia, bifid nose, upper limb anomalies syndrome
Patient organizations
- FACES: The National Craniofacial AssociationFrontonasal dysplasia-bifid nose-upper limb anomalies syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome.
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