Living with Spondylo-megaepiphyseal-metaphyseal dysplasia
A rare genetic bone condition with a short trunk and neck, long limbs, and enlarged round ends of the long bones.
Understanding Spondylo-megaepiphyseal-metaphyseal dysplasia
People have disproportionate short stature with a short, stiff neck and trunk. Fingers and toes are relatively long and may be tightly bent. The bones of the spine and pubic area are slow to harden, and the ends of the long bones are enlarged and round. Neck spine instability can cause nervous system problems. Signs start in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short trunk and short stature
- Short, stiff neck
- Spine curving (kyphoscoliosis)
- Hip dislocation and clubfeet
- Walking difficulty and back pain
- Delayed motor skills
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.
- 3Consider genetic testing
Changes in NKX3-2 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); 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 changes in the NKX3-2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: smmd
Patient organizations
- Little People of AmericaSpondylo-megaepiphyseal-metaphyseal dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondylo-megaepiphyseal-metaphyseal dysplasia.
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