Living with Autosomal recessive Robinow syndrome
A genetic condition that affects growth and appearance, with short limbs and differences in the spine, head, and face.
Understanding Autosomal recessive Robinow syndrome
It can cause short height and short limbs. It may cause differences in how the spine bones and ribs formed. It can also affect the head, neck, and outside genitals.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short middle part of the arms and legs
- Wide-set, bulging eyes (proptosis)
- Forehead that sticks out (frontal bossing)
- Flat nasal bridge
- Sunken chest (pectus excavatum)
- Hearing loss and repeated ear infections
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, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in ROR2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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 Little People of America 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
It is caused by changes in the ROR2 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: costovertebral segmentation defect with mesomelia; costovertebral segmentation defect-mesomelia syndrome; covesdem syndrome; robinow syndrome, autosomal recessive; robinow syndrome, autosomal recessive 1; ror2-related robinow syndrome
Patient organizations
- Little People of AmericaAutosomal recessive Robinow syndrome · United States
- myFaceAutosomal recessive Robinow syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive Robinow syndrome.
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