Living with Craniodigital syndrome and intellectual disability syndrome
A rare genetic syndrome with joined fingers and toes, distinct facial features, and intellectual disability.
Understanding Craniodigital syndrome and intellectual disability syndrome
Facial features include a startled look, a small pointed nose, a small jaw, long dark eyelashes, and prominent eyebrows. It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Joined fingers or toes (syndactyly)
- Intellectual disability
- Small lower jaw (micrognathia)
- Long eyelashes and thick eyebrows
- Short stature
- Excess hair growth
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 Children's Craniofacial Association
- 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
GARD says changes in genes cause this condition. It doesn't name a gene. Inheritance may be autosomal recessive (a changed copy from each parent) or X-linked.
Also known as: craniodigital syndrome-intellectual disability syndrome; craniodigital-intellectual disability syndrome; scott bryant graham syndrome; scott craniodigital syndrome; scott-bryant-graham syndrome
Patient organizations
- Children's Craniofacial AssociationCraniodigital syndrome and intellectual disability syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Craniodigital syndrome and intellectual disability syndrome.
Explore research for Craniodigital syndrome and intellectual disability syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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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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