Spondylodysplastic Ehlers-Danlos syndrome (spEDS) is a heritable connective tissue disorder that causes changes in bone growth, low muscle tone, joint hypermobility, joint contractures, and skin hyperextensibility. People with spEDS typically have short stature and may have delays in motor development.
spEDS is an ultra-rare disorder that affects less than 1 in 1 million people.
Signs and Symptoms
Key signs and symptoms of spEDS include:
Short stature
Low muscle tone
Joint hypermobility
Joint contractures
Skin hyperextensibility
Atrophic scarring
Characteristic skeletal features
Characteristic craniofacial features
You can learn more about the features of spEDS by selecting different body parts from the menu.
Humans have two copies of each gene because we inherit one from each parent. People with spEDS have pathogenic variants in both copies of the B4GALT7, B3GALT6, or SLC39A13 gene.
Inheritance
spEDS is inherited in an autosomal recessive pattern. Autosomal means it can be passed on and inherited equally by males and females. Recessive means the condition only occurs when both copies of a gene are affected by pathogenic variants.
People with spEDS will always pass on one pathogenic variant to their children. Their children will only have spEDS if they inherit a second pathogenic variant in the same gene from their other parent.
People with one recessive pathogenic variant are known as carriers. Carriers do not have the condition themselves but may pass the pathogenic variant on to their children.
Diagnosis
If a person meets the diagnostic criteria for spEDS, genetic testing should be done to confirm the diagnosis. Genetic testing is used to see if a person has the genetic variants that cause spEDS.
To meet the diagnostic criteria for spEDS, a person must meet major criterion 1 AND major criterion 2 AND have characteristic radiographic abnormalities AND at least two other minor criteria (general or gene-specific).
Major Criteria
Short stature (progressive in childhood)
Muscle hypotonia (ranging from severe congenital to mild later onset)
Bilateral elbow contractures or limited elbow movement
Generalized joint hypermobility
Single transverse palmar crease
Characteristic craniofacial features
Characteristic radiographic findings
Severe hypermetropia
Clouded cornea
B3GALT6
Kyphoscoliosis (congenital or early onset, progressive)
Joint hypermobility (generalized or restricted to distal joints, with joint dislocations)
Joint contractures (congenital or progressive, especially hands)
Peculiar fingers (slender, tapered, arachnodactyly, spatulate, with broad distal phalanges)
Talipes equinovarus
Characteristic craniofacial features
Tooth discoloration, dysplastic teeth
Characteristic radiographic findings
Osteoporosis with multiple spontaneous fractures
Ascending aortic aneurysm
Lung hypoplasia, restrictive lung disease
SLC39A13
Protuberant eyes with bluish sclerae
Hands with finely wrinkled palms
Atrophy of the thenar muscles and tapering fingers
Hypermobility of distal joints
Characteristic radiologic findings
Management
spEDS is managed by addressing the symptoms a person is experiencing. Key aspects of care include physical therapy and monitoring for bone density and cardiovascular issues.
spEDS can cause a variety of symptoms in different areas of the body, so people with spEDS may require multiple providers in different specialties to manage their care. Each person should work with their care team to develop a care plan that meets their needs.
Choose a body part from the menu to explore the signs and symptoms of spEDS
Signs and Symptoms
Musculoskeletal
Spine
Skin
Head
Eyes
Mouth and Throat
Chest and lungs
Cardiovascular system
Hands
Feet
How to Use:
Explore the features of spEDS by selecting different body parts from the menu.
Please note that spEDS affects each person differently. The symptoms listed here may not affect everyone with spEDS, and people with spEDS may have other symptoms that are not listed on this page. This page is intended to provide information about symptoms that may occur in individuals with spEDS and does not constitute medical advice. Always consult a healthcare professional for personalized medical guidance.
Select from the list below to learn how spEDS can affect the musculoskeletal system.
Short stature
Short stature means a person is much shorter than other people their age. Specifically, short stature means a person is shorter than 95-97% of people of the same age and sex.
Joint hypermobility
Joint hypermobility means a joint has a greater range of motion than usual.People with spEDS may have hypermobility in the hands and feet (distal joint hypermobility) or throughout the body (generalized joint hypermobility).
Joint instability
A joint is the point where two or more bones connect. Joint instability means the bones of a joint are not held in place securely. This can lead to joint subluxations, dislocations, sprains, and other injuries.
A joint dislocation occurs when two bones at a joint separate completely and are no longer touching. A subluxation is a partial dislocation in which two bones at a joint are out of place but are still touching each other.
Joint contractures
A joint contracture is a fixed tightening of tissues that prevents normal joint movement. Contractures most commonly affect the hands, elbows, and feet in spEDS.
Low muscle tone
Muscle tone is the amount of tension (or resistance to movement) in the muscles. Muscle tone allows us to hold our bodies upright and affects the control, speed, and range of our movement. Muscle hypotonia (or low muscle tone) means the muscles are floppy and unable to properly support the body’s position and movement. It may require more effort for people with hypotonia to move and maintain good posture.
Low muscle tone may result in children taking longer to learn to walk.
Delayed gross motor development
Motor skills are actions that use specific muscle movements to perform a particular task. Delayed gross motor development means that a child has trouble with motor skills that other children their age can do.
Gross motor skills are tasks that involve large muscle groups, such as rolling, crawling, and walking. It may take children with spEDS longer to learn to walk due to low muscle tone.
Low bone density
Bone density is the amount of minerals in the bones. Bones that contain more minerals are denser and stronger. Bones with less minerals are weaker and may be more vulnerable to fractures.
Bone fractures
A bone fracture is a partial or complete break of a bone. Some people with spEDS experience spontaneous bone fractures without any trauma to the area.
🧬 Spontaneous fractures are reported in some people with spEDS who have pathogenic variants in the B3GALT6 gene.
Bowing of the limbs
Bowing of the limbs means there is an abnormal curve in the long bones of the arms or legs.
🧬 Bowing of the limbs is reported in people with spEDS who have pathogenic variants in the B3GALT6 or B4GALT7 genes.
Radioulnar synostosis
The radius and ulna are the two long bones in the forearm. Radioulnar synostosis occurs when there is an abnormal connection between the radius and ulna that limits rotation of the arm.
🧬 Radioulnar synostosis is common in people with spEDS who have pathogenic variants in the B4GALT7 gene.
Characteristic skeletal features
spEDS causes changes in bone growth, which leads to characteristic skeletal features in X-ray images. The three genes associated with spEDS each cause different skeletal features.
Skeletal features reported in B3GALT6-spEDS include:
Short ilia (largest of the hip bones)
Platyspondyly (flattened vertebrae)
Metaphyseal flaring
Osteopenia
Anterior beak of vertebral body
Prominent lesser trochanter
Elbow malalignment
Epihyseal dysplasia femoral head
Metacarpal shortening
Overtubulation
Radial head dislocation
Advanced carpal ossification
Bowing of long bones
Narrowing of long bones
Acetabular dysplasia
Vertebral listhesis
Radioulnar synostosis
Ovoid vertebra
Craniosynostosis
Coxa valga
Wedged vertebral bodies
Bony fusion of proximal ends of ulna and radius
Carpal fusion
Invagination of the atlas into the foramen magnum
Anterior atlanto-axial subluxation
Skeletal features reported in B4GALT7-spEDS include
Radioulnar synostosis
Metaphyseal flaring
Osteopenia
Radial head subluxation or dislocation
Short clavicles with broad medial ends
Anterior splaying of ribs
Swedish key feature of the femur
Bulbous appearance of distal phalangeal tufts
Coxa valga
Reduced height of vertebral bodies
Skeletal features reported in SLC39A13–spEDS include:
Platyspondyly
Osteopenia of the axial skeleton
Widening of the ends with relative narrowing of the diaphyses and flat epiphyses of metacarpals and phalanges
Small ileum
Mildly flat proximal epiphyses
Short and wide femoral necks
Select from the list below to learn how spEDS can affect the spine.
Kyphoscoliosis
Kyphoscoliosis is a combination of two spinal conditions: kyphosis and scoliosis. Kyphosis is an abnormal forward curve in the spine that causes the upper back to look more rounded. Scoliosis is a sideways curve in the spine that gives the spine an “S” or “C” shape.
🧬 Kyphoscoliosis is common in people with spEDS who have pathogenic variants in the B3GALT6 gene. Kyphoscoliosis may be present at birth or may develop in the first two years of life. It is usually progressive in people with spEDS.
Select from the list below to learn how spEDS can affect the skin.
Skin hyperextensibility
Skin hyperextensibility means the skin can be stretched beyond the normal range.
Thin, translucent skin
Some people with spEDS have thin, translucent skin, which can make their veins more visible. This may be harder to see on brown or black skin.
Loose, soft, or doughy skin
Some people with spEDS have unusual skin characteristics, including loose, soft, or doughy skin.
Easy bruising
Some people with spEDS bruise easily because the blood vessels near the skin surface are more fragile and more easily damaged.
Atrophic scars
Atrophic scars are sunken or depressed scars that form when wounds heal below the normal surface layer of the skin. This happens when the body does not produce enough collagen during healing.
Delayed wound healing
Wounds tend to heal more slowly than usual in people with spEDS.
🧬 Delayed wound healing is reported in some people with spEDS who have pathogenic variants in the B4GALT7 gene.
Select from the list below to learn how spEDS can affect the head.
Characteristic craniofacial features
People with spEDS often have similar craniofacial features, which include features of the face and the rest of the head. The three genes associated with spEDS each cause different craniofacial features.
Craniofacial features of B3GALT6-spEDS
Sunken midface (midfacial hypoplasia)
Prominent forehead (frontal bossing)
Prominent or bulging eyes (proptosis)
Blue tint to the whites of the eyes (blue sclerae)
Select from the list below to learn how spEDS can affect the eyes.
Blue sclerae
The sclera (plural: sclerae) is a protective layer of connective tissue that surrounds most of the eye. The sclera is usually white but is more transparent when collagen fibers are thin. This allows the underlying tissue to show through, giving the eyes a bluish color.
Farsightedness (hyperopia)
Hyperopia, also called farsightedness or longsightedness, is a condition that makes it difficult to see objects that are close by. Due to differences in eye shape, people with hyperopia can see objects at a distance more clearly but have trouble seeing objects near them.
Nearsightedness (myopia)
Myopia, also called nearsightedness or shortsightedness, is a condition that makes it difficult to see objects that are far away. Due to differences in eye shape, people with myopia can see objects near them more clearly but have trouble seeing objects further away.
Astigmatism
Astigmatism is a condition that makes it difficult to see objects at any distance. Due to differences in eye shape, people with astigmatism have trouble seeing objects that are near to them and further away.
Select from the list below to learn how spEDS can affect the mouth and throat.
Hypoplastic teeth
Enamel is the hard outer layer that surrounds and protects the teeth. Hypoplastic teeth, also known as enamel hypoplasia, occur when the enamel doesn’t develop properly, causing it to be thinner or missing in parts of the tooth. Hypoplastic teeth are more vulnerable to damage and decay.
🧬 Hypoplastic teeth are reported in some people with spEDS who have pathogenic variants in the B3GALT6 gene.
Tooth discoloration
Some people with spEDS have tooth discoloration. Their teeth may appear yellow or brown.
🧬 Tooth discoloration is reported in some people with spEDS who have pathogenic variants in the B3GALT6 gene.
Hypodontia
Hypodontia, or congenitally missing teeth, means one or more teeth are partially or completely missing. Hypodontia occurs when the teeth never grow in. It is not the result of teeth falling out.
🧬 Hypodontia is common in people with spEDS who have pathogenic variants in the SLC39A13 gene.
Select from the list below to learn how spEDS can affect the chest and lungs.
Pectus carinatum
Pectus carinatum is a bump on the chest that occurs when the sternum sticks outward more than usual. This happens when too much connective tissue grows between the ribs and sternum. Pectus carinatum does not usually cause symptoms but can cause shortness of breath when exercising.
Pectus excavatum
Pectus excavatum is an indentation in the chest that occurs when the sternum grows inward. This happens when too much connective tissue grows between the ribs and the sternum. Mild pectus excavatum may not cause any problems, but if the indentation is deep enough, it can put pressure on the lungs and heart.
Restrictive lung disease
Restrictive lung disease is a group of conditions that reduce the amount of air the lungs can hold, making breathing more difficult.
🧬 Restrictive lung disease is reported in some people with spEDS who have pathogenic variants in the B3GALT6 gene.
Select from the list below to learn how spEDS can affect the cardiovascular system.
Aortic root dilation
The aorta is the largest artery in the body. It carries blood from the heart to the rest of the body. Aortic root dilation, also called aortic root aneurysm, occurs when the first section of the aorta is enlarged.
🧬 Aortic root dilation is reported in some people with spEDS who have pathogenic variants in the B3GALT6 gene.
Mitral valve prolapse
The heart has four chambers separated by valves that open and close to ensure that blood flows in the correct direction. The mitral valve separates the left chambers of the heart. Mitral valve prolapse (MVP) occurs when the mitral valve is floppy and does not close tightly.
🧬 Mitral valve prolapse is reported in some people with spEDS who have pathogenic variants in the B3GALT6 gene.
Select from the list below to learn how spEDS can affect the hands.
Long, slender, or tapering fingers
People with spEDS may have long, slender, and/or tapering fingers. Long and slender fingers are called arachnodactyly. Tapered fingers are thickest at the base and get thinner towards the tip.
Wrinkled palms
Some people with spEDS have extra wrinkles on the palms of their hands.
🧬 Increased palm wrinkling is reported in some people with spEDS who have pathogenic variants in the B3GALT6 or SLC39A13 genes.
Single transverse palmar crease
A transverse palmar crease is a line that runs across the palm of the hand. Most people have two transverse palmar creases, but some people with spEDS only have one.
🧬 A single transverse palmar crease is common in people with spEDS who have pathogenic variants in the B4GALT7 gene.
Atrophy of the thenar and hypothenar muscles
The thenar and hypothenar muscles in the hand control movements of the thumb and pinky finger, respectively. When these muscles waste away or atrophy, it leads to weakness in the fingers.
🧬 Thenar and hypothenar atrophy is common in people with spEDS who have pathogenic variants in the SLC39A13 gene.
Select from the list below to learn how spEDS can affect the feet.
Flat feet
Flat feet (pes planus) means the feet have little to no arch when standing. When a person with flat feet stands, the entire bottom of their foot touches the ground.
Clubfoot
Clubfoot (talipes equinovarus) causes the foot to point downward and twist inward. This causes the toes to point toward the opposite leg which can make walking difficult if not addressed.
Please note that spEDS affects each person differently.
The symptoms listed here may not affect everyone with spEDS, and people with spEDS may have other symptoms that are not listed on this page. This page is intended to provide information about symptoms that may occur in individuals with spEDS and does not constitute medical advice. Always consult a healthcare professional for personalized medical guidance.
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic EDS-B4GALT7 and Spondylodysplastic EDS-B3GALT6 (Caraffi et al., 2019) https://doi.org/10.3390/genes10100799
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome (Ritelli et al., 2017) https://doi.org/10.1186/s13023-017-0704-3
The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylodysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases (Krumps et al., 2020) https://doi.org/10.3390/genes11040420
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