Living with Craniofaciofrontodigital syndrome
A rare syndrome with mild intellectual disability, short stature, heart differences, and loose, wrinkled skin.
Understanding Craniofaciofrontodigital syndrome
It includes mild intellectual disability, short stature, heart differences, a larger head, a prominent forehead, wide-set eyes, loose skin (cutis laxa), very flexible joints, and wrinkled palms and soles. Skeletal differences can also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loose, inelastic skin (cutis laxa)
- Wrinkled palms and soles
- Global developmental delay
- Enlarged heart
- Very flexible joints
- Breathing difficulties
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 autoimmune and inflammatory disease specialists, bone and joint specialists, brain and nervous system specialists and digestive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists)
- 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 Skin Disease 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
GARD says changes in genes cause this condition. It doesn't name a gene.
Also known as: cantu craniofaciofrontodigital syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Craniofaciofrontodigital syndrome.
Explore research for Craniofaciofrontodigital syndrome
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- Eligibility is confirmed by the study team
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