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Living with Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye

A rare genetic syndrome with bent fingers, eye differences, scoliosis, and distinct facial features.

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Understanding Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye

Camptodactyly, myopia, and fibrosis of the medial rectus muscle of the eye is a rare syndrome with bent fingers and multiple eye differences.

Eye features include scarring of an eye muscle, severe nearsightedness, drooping eyelids, and bulging eyes. Other features include scoliosis, stiff joints, and facial differences such as arched eyebrows, a prominent nose, and low-set ears. It is seen in newborns.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Permanently bent fingers (camptodactyly)
  • Bulging eyes and drooping eyelids
  • Crossed eyes (strabismus)
  • Stiff joints
  • Small lower jaw
  • Facial asymmetry

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include bone and joint specialists, eye disease specialists and genetic specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

Care & treatment

Care team
Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); 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 rare disease patient organizations for support
  • 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
Bring these questions to your next doctor visit
Is genetic testing available to find the cause?
Which eye specialists should be involved?
How will the spine and joints be monitored?

Quick facts

Symptoms usually startNewborn
InheritanceAutosomal Dominant, Autosomal Recessive

Changes in genes cause this condition. It can be autosomal dominant or autosomal recessive.

Genetic

Also known as: camptodactyly-joint contractures-facial skeletal defects syndrome; rozin camptodactyly syndrome

Patient organizations

Rare-disease groups that can help

Source: NIH GARD · Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eyeGARD ID 216 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye.

Explore the Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye blog
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Embrace the Ask: How to Seek The Support You Need

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Explore research for Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye

Explore actively recruiting Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye studies with HealthSpark.

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