Living with Carney complex - trismus - pseudocamptodactyly syndrome
A rare condition with features of Carney complex plus a tight jaw and stiff, bent fingers and feet.
Understanding Carney complex - trismus - pseudocamptodactyly syndrome
It has the usual features of Carney complex: spotty skin color, heart and skin tumors (myxomas) in families, and hormone problems. It also includes trismus (a jaw that is hard to open) and distal arthrogryposis (involuntary tightening of finger and toe joints). It starts in the newborn period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Spotty skin color
- Heart and skin tumors (myxomas)
- Hormone (endocrine) problems
- Trismus (a jaw that is hard to open)
- Finger joints that tighten when the wrist bends back
- Foot deformities from joint tightness
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, cancer specialists, genetic specialists and heart and blood vessel specialists.
- 3Consider genetic testing
Changes in MYH8 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Cancer specialists (oncologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- 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
Changes in the MYH8 gene cause this condition. It is inherited in an autosomal dominant way, so one changed copy of the gene can cause it.
Also known as: carney complex variant; carney complex-trismus-pseudocamptodactyly 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 Carney complex - trismus - pseudocamptodactyly syndrome.
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