Living with Dyggve-Melchior-Clausen syndrome
A rare, progressive genetic condition that affects bone growth and causes a small head and intellectual disability.
Understanding Dyggve-Melchior-Clausen syndrome
Only about 100 cases have been reported. Bone differences can include a barrel-shaped chest, a short trunk, partly dislocated hips, knock knees, bowlegs, and stiff joints. Growth is slow, leading to short height. A small number of people have instability in the upper neck bones that can press on the spinal cord and cause weakness. Signs begin in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short trunk and short height
- Abnormal bone growth at the ends of long bones
- Hip bone differences
- Small head size (microcephaly)
- Severe intellectual disability
- Trouble walking
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.
- 3Consider genetic testing
Changes in DYM are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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); Brain and nervous system specialists (neurologists); 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 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 changes in the DYM gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: dmc; dmc disease; dmc syndrome; dyggve melchior clausen syndrome; dyggve-melchior-clausen disease; dyggve-melchior-clausen dysplasia
Patient organizations
- Little People of AmericaDyggve-Melchior-Clausen syndrome · United States
- Coalition for Heritable Disorders of Connective TissueDyggve-Melchior-Clausen syndrome · United States
- Human Growth FoundationDyggve-Melchior-Clausen syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Dyggve-Melchior-Clausen syndrome.
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