Living with Oculocerebrofacial syndrome, Kaufman type
A rare genetic condition with eye problems, severe intellectual disability, a small head, and distinct facial features.
Understanding Oculocerebrofacial syndrome, Kaufman type
Most people have an unusually small head and weak muscle tone, and are late to walk. Intellectual disability is severe or profound, and most never speak. Eye differences vary, including small or underdeveloped eyes, coloboma, and optic nerve differences. GARD lists onset as during pregnancy and as a newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Delayed development overall
- Feeding difficulties and slow growth
- Small cornea (microcornea) and other eye differences
- Crossed eyes (strabismus) and nearsightedness
- Widely separated inner corners of the eyes (telecanthus)
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 UBE3B 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 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 UBE3B gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: blepharophimosis-ptosis-intellectual disability syndrome; bpids; kaufman oculocerebrofacial syndrome; oculocerebrofacial syndrome kaufman type
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 Oculocerebrofacial syndrome, Kaufman type.
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