Living with FG syndrome 1
A genetic condition seen almost only in males, with intellectual disability, low muscle tone, constipation and a distinctive facial look.
Understanding FG syndrome 1
Almost everyone has intellectual disability, from mild to severe. People tend to be friendly, curious, and hyperactive with a short attention span, and their daily living skills are often stronger than their language skills. Physical features include low muscle tone, broad thumbs and big toes, constipation or anal differences, and a larger head for body size. Early intervention and educational services help each child reach their potential.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Delayed speech and language
- Low muscle tone (hypotonia)
- Broad thumbs and big toes
- Constipation or anal differences
- Differences in the corpus callosum of the brain
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, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in MED12 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); Digestive system specialists (gastroenterologists); 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 Simons Searchlight and other patient organizations
- 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 MED12 gene on the X chromosome cause it. It is inherited in an X-linked recessive pattern.
Also known as: fg syndrome caused by mutation in med12; fg syndrome type 1; keller syndrome; med12 fg syndrome; oks; opitz kaveggia syndrome
Patient organizations
- Simons SearchlightFG syndrome 1 · United States
- National Organization of Disorders of the Corpus CallosumFG syndrome 1 · United States
- Pull-thru NetworkFG syndrome 1 · United States
You are more than your diagnosis
Perspectives from people navigating life with FG syndrome 1.
Explore research for FG syndrome 1
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- Eligibility is confirmed by the study team
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