Living with THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
A rare genetic condition with developmental delay, a smaller head, and intellectual disability.
Understanding THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
It causes mild to severe intellectual disability and some differences in the face. Other features present at birth can include heart defects, dental problems, and differences in the kidneys and brain. Boys may have undescended testes. Short stature is also common. Signs are noticed in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Delayed speech and language
- Mild microcephaly (smaller than average head)
- Mild to severe intellectual disability
- Heart differences
- Dental problems, including cavities
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 THOC6 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 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
This condition is caused by changes in the THOC6 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: bbis; bbis - beaulieu boycott innes syndrome; beaulieu boycott innes syndrome; beaulieu-boycott-innes syndrome; tho complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
Patient organizations
- Child Neurology FoundationTHOC6-related developmental delay-microcephaly-facial dysmorphism syndrome · United States
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Perspectives from people navigating life with THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome.
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