Living with KBG syndrome
A rare genetic condition with distinctive facial features, large upper front teeth, bone differences, and developmental delay.
Understanding KBG syndrome
A characteristic feature is unusually large upper front teeth (macrodontia). Other features include facial differences, delayed bone age, spine, rib, and hand differences, short height from birth, and delayed speech and walking. Most people have mild to moderate intellectual disability, and many have neurodevelopmental conditions such as hyperactivity, anxiety, or autism spectrum disorder. Less common features are hearing loss, seizures, and heart defects.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Large upper front teeth (macrodontia)
- Developmental delay
- Short stature
- Delayed bone maturation
- Hearing loss
- Cleft palate
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 bone and joint specialists, brain and nervous system specialists, genetic specialists and gum, teeth and mouth specialists.
- 3Consider genetic testing
Changes in ANKRD11 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- Expert care
- Expert lists: World Craniofacial Foundation
- 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 KBG Foundation 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 ANKRD11 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough to cause it.
Also known as: kbgs; short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome; short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome; short stature, facial and skeletal anomalies, intellectual disability, macrodontia syndrome
Patient organizations
- KBG FoundationKBG syndrome · United States
- Simons SearchlightKBG syndrome · United States
- FACES: The National Craniofacial AssociationKBG syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with KBG syndrome.
Explore research for KBG syndrome
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- Recruiting studies from ClinicalTrials.gov
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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