Living with Multiple epiphyseal dysplasia, Lowry type
A rare bone condition seen from birth, with short limbs, small bone ends, a cleft palate, and a small lower jaw.
Understanding Multiple epiphyseal dysplasia, Lowry type
This condition causes small, flat bone ends (epiphyses), especially in the thigh bone near the hip. People may have short upper arms and legs, a cleft in the roof of the mouth (cleft palate), a small lower jaw, and mild joint stiffness. Other reported features include scoliosis, knock knees, and short fingers or toes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Short upper arms and legs (rhizomelia)
- Cleft palate
- Small lower jaw (micrognathia)
- Joint stiffness in the elbows and knees
- Curved spine (scoliosis)
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 says changes in genes cause this condition. It doesn't list a specific gene or how it is inherited.
Also known as: multiple epiphyseal dysplasia lowry type; multiple epiphyseal dysplasia with robin phenotype
Patient organizations
- Little People of AmericaMultiple epiphyseal dysplasia, Lowry type · United States
You are more than your diagnosis
Perspectives from people navigating life with Multiple epiphyseal dysplasia, Lowry type.
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