Living with Rhizomelic syndrome, Urbach type
A rare bone growth condition from birth with short upper arms, head and face differences, and sometimes heart differences.
Understanding Rhizomelic syndrome, Urbach type
People may be short and have hip dislocation and thumb differences. Head and face features can include a small head size, sparse fine hair, and a small jaw. Some have heart defects such as pulmonary stenosis, delayed development, and mild elbow stiffness. It begins at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short upper arms (rhizomelia)
- Hip dislocation
- Small head size (microcephaly)
- Cleft palate and high palate
- Extra or finger-like thumb
- Cognitive impairment
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 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 may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
- 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 lists autosomal recessive inheritance, so a child inherits a changed copy of the gene from each parent. It does not name a gene.
Patient organizations
- Little People of AmericaRhizomelic syndrome, Urbach type · United States
You are more than your diagnosis
Perspectives from people navigating life with Rhizomelic syndrome, Urbach type.
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