Living with Robinow syndrome
A rare condition that mainly affects bone growth, with short arms and legs, distinct facial features, and genital differences.
Understanding Robinow syndrome
There are autosomal recessive and autosomal dominant types. The recessive type brings short forearm and limb bones, short fingers and toes, spine and rib differences, and short height, plus distinctive facial features. The dominant type is similar but usually milder. Development is delayed in 10 to 15 percent of people, though intelligence is usually normal.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Short forearms and middle parts of limbs
- Wide-set eyes (hypertelorism)
- Underdeveloped external genitals
- Small size at birth
- Dental crowding and gum overgrowth
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.
- 4Connect with expert centers
Little People of America and World Craniofacial Foundation 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, World Craniofacial Foundation
- 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
Gene changes cause Robinow syndrome. It can be autosomal recessive or autosomal dominant. GARD does not name a gene in this record.
Also known as: acral dysostosis with facial and genital abnormalities; drs1; fetal face syndrome; foetal face syndrome; mesomelic dwarfism-small genitalia syndrome; robinow dwarfism
Patient organizations
- Little People of AmericaRobinow syndrome · United States
- World Craniofacial FoundationRobinow syndrome · United States
- Children's Craniofacial AssociationRobinow syndrome · United States
- FACES: The National Craniofacial AssociationRobinow syndrome · United States
- Human Growth FoundationRobinow syndrome · United States
- The MAGIC FoundationRobinow syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Robinow syndrome.
Explore research for Robinow syndrome
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- Recruiting studies from ClinicalTrials.gov
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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