Living with Colobomatous microphthalmia-rhizomelic dysplasia syndrome
A rare genetic condition with eye differences, short upper arms and legs, short stature and sometimes learning differences.
Understanding Colobomatous microphthalmia-rhizomelic dysplasia syndrome
Eye differences can include very small or missing eyeballs, colobomas and a small cornea. The upper arms and thighs are short on both sides, with short stature and tight large joints. Some have intellectual disability with autistic features, a large head, or early puberty.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small eyeballs (microphthalmia) or missing eyeballs
- Coloboma (notched pupil)
- Small cornea (microcornea)
- Short upper arms and thighs (rhizomelia)
- Large head (macrocephaly)
- Moderate intellectual disability
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in MAB21L2 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); 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
Quick facts
Changes in the MAB21L2 gene are listed. It can be inherited in an autosomal dominant or autosomal recessive pattern.
Also known as: mcsks; microphthalmia-coloboma-rhizomelic skeletal dysplasia; microphthalmia, syndromic type 14; microphthalmia/coloboma and skeletal dysplasia syndrome
Patient organizations
Rare-disease groups that can help
- 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 Colobomatous microphthalmia-rhizomelic dysplasia syndrome.
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