Living with Radioulnar synostosis-developmental delay-hypotonia syndrome
An extremely rare syndrome with a fused forearm, low muscle tone, and developmental delay.
Understanding Radioulnar synostosis-developmental delay-hypotonia syndrome
It involves a fused forearm bone joint on one side (radioulnar synostosis) present from birth, low muscle tone, and developmental delay. Facial features can include a long face, a prominent nose, and prominent ears. GARD lists onset in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fused forearm bones
- Low muscle tone (hypotonia)
- Delays in development
- Long, narrow head and prominent ears
- Dental differences and cavities
- Hearing and eye alignment differences
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, eye disease 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
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); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: 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 World Craniofacial Foundation 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
GARD says gene changes cause this condition. It doesn't name a gene or describe inheritance yet.
Also known as: der kaloustian-mcintosh-silver syndrome; radioulnar synostosis with developmental delay and hypotonia syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Radioulnar synostosis-developmental delay-hypotonia syndrome.
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