Living with Temtamy syndrome
A genetic condition that affects how the brain forms and works, and can also involve the eyes, heart, and learning.
Understanding Temtamy syndrome
In most people, the bundle of nerve fibers that connects the two sides of the brain (the corpus callosum) is partly or fully missing. Other features can include seizures, eye changes, heart problems, intellectual disability, and developmental delay. Symptoms may be seen during pregnancy, at birth, or in infancy. Diagnosis is based on symptoms and brain imaging, and genetic testing can confirm it.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing or small corpus callosum (nerve fibers joining the brain halves)
- Global developmental delay
- Intellectual disability
- Eye differences, such as a gap in the eye (coloboma)
- Larger than usual head (macrocephaly)
- Wide-set eyes (hypertelorism)
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 and genetic specialists.
- 3Consider genetic testing
Changes in C12orf57 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); 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 National Organization of Disorders of the Corpus Callosum
- 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
Temtamy syndrome is caused by changes in the C12orf57 gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: craniofacial dysmorphism with coloboma of eye and corpus callosum agenesis syndrome; craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome; temtamy shalash syndrome; temtamy-shalash syndrome; temtys
Patient organizations
- National Organization of Disorders of the Corpus CallosumTemtamy syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Temtamy syndrome.
Explore research for Temtamy syndrome
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