Living with Spondylodysplastic Ehlers-Danlos syndrome
A rare connective tissue condition with short stature, loose joints, stretchy skin, and low muscle tone.
Understanding Spondylodysplastic Ehlers-Danlos syndrome
Features that overlap across the subtypes include short stature that grows more noticeable in childhood and very flexible small joints. Skin is stretchy and soft, especially on the hands and feet. Muscle tone is low, from severe at birth to mild with later onset. Bone differences, thinner bones, delayed motor development, and bowed limbs can also occur. Signs may begin in the newborn or infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature that becomes clearer in childhood
- Very flexible (double-jointed) joints
- Soft, stretchy skin
- Spine curving forward and to the side (kyphoscoliosis)
- Clubfeet or flat feet
- Delayed development
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 autoimmune and inflammatory disease specialists, bone and joint specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Bobby Jones Chiari & Syringomyelia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Bobby Jones Chiari & Syringomyelia 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 Bobby Jones Chiari & Syringomyelia 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
Changes in one of three genes, B4GALT7, B3GALT6, or SLC39A13, cause the three subtypes. GARD does not list an inheritance pattern here.
Also known as: speds; spondylodysplastic eds
Patient organizations
- Bobby Jones Chiari & Syringomyelia FoundationSpondylodysplastic Ehlers-Danlos syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Spondylodysplastic Ehlers-Danlos syndrome.
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