Living with Autosomal dominant Robinow syndrome
A genetic condition that shortens the arms and legs and changes the head, face, and genitals.
Understanding Autosomal dominant Robinow syndrome
People with this condition have mild to moderate shortening of the arms and legs. It also affects the shape of the head and face and the outside genitals. Signs are usually seen in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Wide-set, bulging eyes (proptosis)
- Forehead that sticks out (frontal bossing)
- Flat nasal bridge
- Cleft palate or cleft tongue
- Small lower jaw (micrognathia)
- Sunken chest (pectus excavatum)
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.
- 3Ask 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); Brain and nervous system specialists (neurologists); 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 genes (also called variants) cause this condition. It is autosomal dominant, so a change in one copy of a gene can cause it.
Also known as: robinow syndrome, autosomal dominant; robinow syndrome, autosomal dominant type
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 Autosomal dominant Robinow syndrome.
Explore research for Autosomal dominant Robinow syndrome
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- Eligibility is confirmed by the study team
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