Living with Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
A rare genetic condition in newborns with cataracts from birth, serious liver problems and global developmental delay.
Understanding Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
Newborns have cataracts, liver failure and jaundice caused by slowed bile flow (cholestasis), along with global developmental delay.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. The summary describes:
- Cataract from birth
- Liver failure in newborns
- Jaundice from slowed bile flow (cholestasis)
- Global developmental delay
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 digestive system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in CYP51A1 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
- Digestive system specialists (gastroenterologists); 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 rare disease patient organizations for support
- 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 CYP51A1 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome.
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