Living with Fine-Lubinsky syndrome
A rare genetic syndrome with cataracts, hearing loss, developmental delay, seizures, short stature and distinctive facial features.
Understanding Fine-Lubinsky syndrome
Features include cataracts from birth, sensorineural hearing loss, developmental delay with intellectual disability, seizures, short stature, a short, broad head shape, and distinctive facial features. Other reported features include skeletal differences, nail problems, and autism spectrum disorder. It begins in the newborn or infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cataracts, often from birth
- Developmental delay
- Floppy muscle tone in infancy
- Flat face and drooping eyelids
- Cleft palate
- Slow growth after birth
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 brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in MAF 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
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); 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 Children's Craniofacial Association 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 MAF gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: aymé-gripp syndrome; brachycephaly-deafness-cataract-intellectual disability syndrome; brachycephaly-hearing loss-cataract-intellectual disability syndrome; brachycephaly, deafness, cataract, intellectual disability syndrome; brachycephaly, deafness, cataract, microstomia, and impaired intellectual development; fine lubinsky syndrome
Patient organizations
- Children's Craniofacial AssociationFine-Lubinsky syndrome · United States
- FACES: The National Craniofacial AssociationFine-Lubinsky syndrome · United States
- The Vision of Children FoundationFine-Lubinsky syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Fine-Lubinsky syndrome.
Explore research for Fine-Lubinsky syndrome
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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