Living with Ehlers-Danlos syndrome, kyphoscoliotic type, 2
An inherited connective tissue condition with low muscle tone from birth, a curving spine, loose joints, and sometimes hearing loss.
Understanding Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Babies have low muscle tone from birth, along with early-onset curving of the spine. Joints are very flexible and may dislocate, especially the shoulders, hips, and knees. Skin is stretchy and bruises easily. Other features can include bulging or weakened arteries (aneurysms), brittle bones, a blue tint to the whites of the eyes, hernias, clubfoot, and hearing loss present at birth. Genetic testing is needed to confirm the diagnosis.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone from birth
- Curved spine (kyphoscoliosis)
- Very flexible joints
- Stretchy skin and easy bruising
- Hearing loss (sensorineural)
- Muscle weakness and delays in 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 autoimmune and inflammatory disease specialists, bone and joint specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in FKBP14 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
Ehlers-Danlos Society and 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: Ehlers-Danlos Society, 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 Ehlers-Danlos Society 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 FKBP14 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: eds with progressive kyphoscoliosis, myopathy, and deafness; eds with progressive kyphoscoliosis, myopathy, and hearing loss; eds, kyphoscoliotic and hearing loss type; ehlers-danlos syndrome with kyphoscoliosis, myopathy, and deafness; ehlers-danlos syndrome with kyphoscoliosis, myopathy, and hearing loss; ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness
Patient organizations
- Ehlers-Danlos SocietyEhlers-Danlos syndrome, kyphoscoliotic type, 2 · United States
- Bobby Jones Chiari & Syringomyelia FoundationEhlers-Danlos syndrome, kyphoscoliotic type, 2 · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ehlers-Danlos syndrome, kyphoscoliotic type, 2.
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