Living with Congenital cataracts-facial dysmorphism-neuropathy syndrome
A rare genetic condition with cataracts from birth, distinct facial features and nerve damage that affects movement and feeling.
Understanding Congenital cataracts-facial dysmorphism-neuropathy syndrome
Babies have clouded eye lenses and sometimes small eyes or shaky eye movements. Nerve damage causes leg then arm weakness starting in the first years, and numbness and tingling in the teens. Facial features become clearer in adulthood. Some people have balance trouble, mild intellectual disability or episodes of muscle breakdown (rhabdomyolysis).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cataracts from birth
- Small eyes and shaky eye movements
- Nerve damage with weakness and numbness
- Delayed standing and walking
- Curved spine and joint contractures
- Weak bones (osteoporosis)
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 CTDP1 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
National Ataxia Foundation and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Ataxia Foundation, The Foundation for Peripheral Neuropathy
- 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 National Ataxia 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 CTDP1 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: cataract, congenital, with facial dysmorphism and neuropathy; ccfdn; ccfdn - congenital cataracts, facial dysmorphism and neuropathy; congenital cataracts, facial dysmorphism and neuropathy; congenital cataracts, facial dysmorphism, and neuropathy
Patient organizations
- National Ataxia FoundationAtaxia · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital cataracts-facial dysmorphism-neuropathy syndrome.
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