Living with Huppke-Brendel syndrome
A rare genetic condition with cataracts and hearing loss from birth, plus severe developmental delay and low muscle tone.
Understanding Huppke-Brendel syndrome
Babies have clouding of the eye lens at birth (congenital cataracts) and hearing loss from inner ear or nerve damage. They have significant delays in motor skills and thinking, and low muscle tone throughout the body. Brain differences include underdeveloped brain areas and reduced nerve covering (myelin). Blood levels of copper and ceruloplasmin are low. Some have fast eye movements or seizures.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cataracts at birth
- Hearing loss
- Severe global developmental delay
- Low muscle tone (hypotonia)
- Absent speech
- Seizures
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 SLC33A1 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 Child Neurology Foundation
- 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 SLC33A1 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: acetyl coa transporter deficiency; acetyl-coa transporter deficiency; congenital cataract-deafness-severe developmental delay syndrome; congenital cataract-hearing loss-severe developmental delay syndrome; congenital cataract, deafness, severe developmental delay syndrome; congenital cataract, hearing loss, severe developmental delay syndrome
Patient organizations
- Child Neurology FoundationHuppke-Brendel syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Huppke-Brendel syndrome.
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