National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Spondylodysplastic Ehlers-Danlos syndrome

Información en español


Other Names:
Proteodermatan sulfate, defective biosynthesis of; PDS, defective biosynthesis of; Dermatan sulfate proteoglycan; Proteodermatan sulfate, defective biosynthesis of; PDS, defective biosynthesis of; Dermatan sulfate proteoglycan; Xylosylprotein 4-beta-galactosyltransferase deficiency; XGPT deficiency; Galactosyltransferase 1 deficiency; Ehlers-Danlos syndrome, progeroid type (former) See More
Categories:
This disease is grouped under:
Spondylodysplastic Ehlers-Danlos syndrome (EDS) is a subtype of the EDS, a group of genetic disorders of the connective tissue, which is the material between body cells that gives tissues form and strength. Ehlers-Danlos syndromes primarily affects the skin, hair, and skeletal system. Symptoms usually begin by childhood or adolescence. Like people with other types of EDS, people with Spondylodysplastic EDS have unusually flexible joints; loose, elastic skin; and easy scarring. Features that are unique to this type include short stature; bowing of the legs; weak muscle tone; sparse scalp hair and eyebrows; soft, doughy skin; and thin, translucent skin (which can cause the face to look older).[1] Additional symptoms may include bone weakness, weak muscle tone, mild intellectual disability, and pes planus.[2][3] Spondylodysplastic EDS may be caused by mutations in the B4GALT7 gene, the B3GALT6, or the SLC39A13 gene.[3] It is inherited in an autosomal recessive pattern.[4] Treatment depends on the symptoms that are present.
Last updated: 3/20/2018
Common symptoms of spondylodysplastic Ehlers-Danlos syndrome include:[5][1][6][2][3]
  • Progressive short stature in childhood, which can result in short stature as an adult (less than 152cm)
  • Poor muscle tone (hypotonia), ranging from severe and present from birth, to mild and later-onset
  • Bowing of limbs
Other symptoms include:[3][5]
  • Skin hyperextensibility; soft, doughy skin; thin, translucent skin
  • Pes planus (flat feet)
  • Delayed motor development
  • Fragile bones from low bone mineral density (osteopenia)
  • Mild intellectual disabilities or learning disabilities
  • Eye problems
  • Characteristic facial features (triangular face, wide-spaced eyes, proptosis ("bulging" eyes), narrow mouth, low-set ears, sparse scalp hair, flat face, wide forehead, blue sclerae, abnormal teeth, and cleft palate/bifid uvula)
  • Thin, curly hair; sparse eyebrows and eyelashes
  • Joint contractures and hypermobility
  • Loose, elastic skin on the face
The former name for spondylodysplastic Ehlers-Danlos syndrome was "EDS, progeroid type." Although "progeroid" means "appearance similar to old age," affected people do not actually have premature aging and are not expected to have a shortened life span.

Last updated: 3/20/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 64 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aortic valve stenosis
Narrowing of aortic valve
0001650
Arachnodactyly
Long slender fingers
Spider fingers
[ more ] 		0001166
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Cutis laxa
Loose and inelastic skin
0000973
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Flexion contracture
Flexed joint that cannot be straightened
0001371
Gingivitis
Inflamed gums
Red and swollen gums
[ more ] 		0000230
Global developmental delay 0001263
Hyperextensible skin
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] 		0000974
Lipodystrophy
Inability to make and keep healthy fat tissue
0009125
Long toe
Increased length of toes
Long toes
[ more ] 		0010511
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ] 		0000256
Muscular hypotonia
Low or weak muscle tone
0001252
Palmoplantar cutis gyrata 0007469
Pes planus
Flat feet
Flat foot
[ more ] 		0001763
Progeroid facial appearance
Premature aged appearance
0005328
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Testicular torsion 0100813
Thin skin 0000963
30%-79% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Abnormality of skin pigmentation
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ] 		0001000
Atrophic scars
Sunken or indented skin due to damage
0001075
Narrow mouth
Small mouth
0000160
Osteopenia 0000938
Skeletal dysplasia 0002652
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Sparse eyelashes
Scant eyelashes
Scanty eyelashes
Thin eyelashes
[ more ] 		0000653
Sparse scalp hair
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ] 		0002209
Telecanthus
Corners of eye widely separated
0000506
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
5%-29% of people have these symptoms
Abnormality of primary teeth
Abnormality of baby teeth
Abnormality of milk teeth
[ more ] 		0006481
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Cleft palate
Cleft roof of mouth
0000175
Genu recurvatum
Back knee
Knee hyperextension
[ more ] 		0002816
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Kyphoscoliosis 0002751
Mild global developmental delay 0011342
Phalangeal dislocation 0006243
Scoliosis 0002650
Talipes equinovalgus 0001772
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
Percent of people who have these symptoms is not available through HPO
Absent earlobe
Earlobe, absent
Lobeless ears
[ more ] 		0000387
Accelerated skeletal maturation
Advanced bone age
Early bone maturation
[ more ] 		0005616
Autosomal recessive inheritance 0000007
Bifid uvula 0000193
Bowing of the long bones
Bowed long bones
Bowing of long bones
[ more ] 		0006487
Coxa valga 0002673
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Flat forehead
Flattened forehead
0004425
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ] 		0001388
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] 		0011800
Narrow chest
Low chest circumference
Narrow shoulders
[ more ] 		0000774
Pectus carinatum
Pigeon chest
0000768
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] 		0000520
Radioulnar synostosis
Fused forearm bones
0002974
Short clavicles
Short collarbone
0000894
Single transverse palmar crease 0000954
Slender toe
Narrow toe
0011308
Small face
Short and narrow face
Small facies
[ more ] 		0000274
Showing of 64 |
Last updated: 7/1/2020
Spondylodysplastic Ehlers-Danlos syndrome (spEDS) can be caused by changes (mutations) in both of a person's copies of the B4GALT7 gene, which is located on chromosome 5. This gene provides instructions for making an enzyme that is involved in the production of collagen (the main protein in connective tissue). When not enough enzyme is made by the B4GALT7 genes, collagen is not formed correctly in connective tissue. The symptoms of the disorder are caused by weak connective tissue.[6] Researchers are still studying exactly how mutations in the B4GALT7 gene cause the signs and symptoms.[7][3]

Some cases are caused by mutations in the B3GALT6 gene. People with mutations in this gene may have kyphoscoliosis, joint hypermobility, contractures, peculiar face, slender and tapered fingers, abnormal teeth, osteoporosis, aortic aneurisms, and lung problems. The B3GALT6 gene encodes a protein that is part of the connective tissue.[3][8]

Other cases are caused by mutations in the SLC39A13 gene. These cases are characterized by protuberant eyes, wrinkled palms of the hands, tapering fingers, and hypermobility of distal joints. It is not known how mutations in this gene result in the symptoms. The SLC39A13 gene produces a protein that regulates the entrance of zinc into cells.[3][9]
Last updated: 4/20/2017
Spondylodysplastic Ehlers-Danlos syndrome is inherited in an autosomal recessive pattern. This means that an individual must have two non-functional copies of the gene to be affected. One copy is inherited from each parent. If an individual has only one non-functional copy (such as each parent), he or she is a "carrier." Carriers do not typically show any signs or symptoms of a recessive condition. When two carriers of a recessive condition have children, with each pregnancy there is a 25% chance for the child to be affected, a 50% chance for the child to be a carrier (like each parent) and a 25% chance that the child will be unaffected and also not be a carrier. An individual with a recessive condition will generally have unaffected children, except in the rare circumstance where his or her partner is a carrier of the same mutated gene.
Last updated: 3/20/2018

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
People with spondylodysplastic Ehlers-Danlos syndrome can benefit from a variety of treatments depending on their symptoms. Affected children with weak muscle tone and delayed development might benefit from physiotherapy to improve muscle strength and coordination. People with joint pain might benefit from anti-inflammatory medications. Lifestyle changes or precautions during exercise or intense physical activity may be advised to reduce the risk of accidents involving the skin and bones.[4] It is recommended that affected individuals discuss treatment options with their healthcare provider.
Last updated: 3/20/2018

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Spondylodysplastic Ehlers-Danlos syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Education Resources

  • The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

Community Resources

  • The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Spondylodysplastic Ehlers-Danlos syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Spondylodysplastic Ehlers-Danlos syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I'd like to know all about Ehlers-Danlos syndrome progeroid type. See answer


  1. Kresse H, Rosthoj S, Quentin E, Hollmann J, Glossl J, Okada S, Tonnesen T. Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid. Am. J. Hum. Genet. 1987; 41:436-453.
  2. Hernandez A. et al. Ehlers-Danlos features with progeroid facies and mild mental retardation: further delineation of the syndrome. Clinical Genetics. 1986; 30:456-461.
  3. Malfait F, Francomano C, Byers P et al. The 2017 international classification of the Ehlers–Danlos syndromes. Am J Med Genet C Semin Med Genet. March, 2017; 175(1):8-26. http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.31552/full.
  4. Wenstrup R, Paepe AD. Ehlers-Danlos Syndrome, Classic Type. GeneReviews. 2011; http://www.ncbi.nlm.nih.gov/books/NBK1244/#eds.Differential_Diagnosis.
  5. Faiyaz-Ul-Haque M. et al. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. Am. J. Med. Genet.. 2004; 128(A):39-45.
  6. Quentin E, Gladen A, Roden L, Kresse H. A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: Galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome. Proc. Natl. Acad. Sci. 1990; 87:1342-1346.
  7. https://ghr.nlm.nih.gov/gene/B4GALT7. Genetics Home Reference. 2017; B4GALT7 gene.
  8. B3GALT6 gene. Genetics Home Reference. 2017; https://ghr.nlm.nih.gov/gene/B3GALT6#conditions.
  9. SLC39A13 gene. Genetics Home Reference. 2017; https://ghr.nlm.nih.gov/gene/SLC39A13.