Living with Adducted thumbs-arthrogryposis syndrome, Christian type
A rare genetic condition present from birth that affects body development, with cleft palate, joint stiffness, and a small head.
Understanding Adducted thumbs-arthrogryposis syndrome, Christian type
Features include a cleft palate, a small head (microcephaly), early closing of skull bones (craniosynostosis), limited joint movement (arthrogryposis), and intellectual disability. Some people also have different facial features, trouble swallowing, low muscle tone, bluish skin color, extra hair growth on the legs, or hardening of the skin. It is noticed in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD's summary says they include:
- Cleft palate
- Small head size (microcephaly)
- Early closing of skull bones (craniosynostosis)
- Limited joint movement (arthrogryposis)
- Intellectual disability
- Trouble swallowing
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, ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- 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 World Craniofacial 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
GARD says it is caused by a recessive gene, so a child inherits a changed copy of the gene from each parent.
Also known as: adducted thumbs syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Adducted thumbs-arthrogryposis syndrome, Christian type.
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