Living with Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
A rare genetic syndrome with severe facial clefting, very small eyes, and cleft palate, present from birth.
Understanding Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
Features include a complete cleft palate, facial cleft, extremely small eyes (microphthalmia), and widely spaced eyes. Many also have notches in the eyelids, sparse or missing eyelashes and eyebrows, a wide nasal bridge, and low-set ears. It begins before or at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very small eyes (microphthalmia)
- Cleft palate
- Facial cleft
- Notches in the eyelids (coloboma)
- Cataracts
- Hearing loss
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, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in ALX1 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
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
Changes in the ALX1 gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: alx1-related frontonasal dysplasia; frontonasal dysplasia type 3; frontonasal dysplasia-severe microphthalmia-severe facial clefting 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
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Perspectives from people navigating life with Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome.
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