Spondylo-dysplastic ehlers-danlos syndromeQ79.6

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

Dieser Artikel auf Deutsch

Synonym(s)

EDSP1; EDSSLA; EDSSPD; Ehlers-Danlos syndromes, progeroid type; Ehlers-Danlos syndromes, spondydysplastic type; EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES; Galactosyltransferase I deficiency; spEDS; Spondylo-dysplastic EHS; XGPT deficiency

Requires free registration (medical professionals only)

Please login to access all articles, images, and functions.

Our content is available exclusively to medical professionals. If you have already registered, please login. If you haven't, you can register for free (medical professionals only).


Requires free registration (medical professionals only)

Please complete your registration to access all articles and images.

To gain access, you must complete your registration. You either haven't confirmed your e-mail address or we still need proof that you are a member of the medical profession.

Finish your registration now

DefinitionThis section has been translated automatically.

Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of hereditary connective tissue diseases whose main clinical features are overstretchability of the skin and hyperreflexia of the joints. Depending on the type of disease and the underlying gene mutations, vessels, muscles, ligaments, tendons and internal organs are also affected (Brinckmann J 2018).

So far, 19 gene mutations are known to trigger EDS. The various mutations lead to changes in the structure, production or processing of collagen or of proteins that interact with collagen. The frequency of occurrence in the population is assumed to be 1:5,000 to 1:10,000, making EDS a rare disease (orphan disease).

The very rare spondylo-dysplastic EDS is characterized by an autosomal recessive inheritance. It is triggered by mutations in the genes B4GALT7, B3GALT6 and SLC39A13. Affected individuals are often small and show muscular hypotension (Brady et al. 2017; Giunta C et al. 2008). It is not uncommon for the joints to be markedly hyperextensible (Caraffi SG et al. 2019).

Clinical featuresThis section has been translated automatically.

Major symptoms are:

  • Skeletal system: Progressive dwarfism in childhood, bending of the extremities,
  • Neuromuscular system: Muscular hypotension (may already be congenital)

Minor symptoms

  • Skin: Hyperelasticity, soft pasty translucent skin,
  • Skeletal system: Pes planus, osteopenia
  • Neuromuscular system: delayed motor and cognitive development

DiagnosisThis section has been translated automatically.

Detection of the genetic defect;

major symptom dwarfism +

Major symptom muscular hypotension +

Characteristic radiological changes of the bones +

Three other minor symptoms

LiteratureThis section has been translated automatically.

  1. Brady A et al (2017): Ehlers-Danlos syndrome, rare types. In: Ehlers-Danlos Society. American Journal of Medical Genetics 175C:70-115
  2. Brinckmann J (2018) Hereditary connective tissue diseases. In. Plewig et al. (Ed.) Braun-Falco`s Dermatology, Venerology and Allergology, Springer Reference Medizin S 883-890
  3. Bowen et al (2017): Ehlers-Danlos syndrome, classical type. American Journal of Medical Genetics 175C:17-39
  4. Byers PH et al (2019): Diagnosis, natural history and management in vascular Ehlers-Danlos syndrome. American Journal of Medical Genetics 175C:40-47
  5. Caraffi SG et al (2019) Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6. Genes (Basel) 10. pii: E799. https://www.ncbi.nlm.nih.gov/pubmed/31614862
  6. Chopra P et al (2017): Pain management in the Ehlers-Danlos syndromes. American J Howard R et al (2020) Ruptured ulnar artery aneurysm in vascular Ehlers-Danlos syndrome. J Vasc Surg Cases Innov Tech 6:71-74.
  7. Giunta C et al (2008) Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal recessive entity caused by mutations in the zinc transporter gene SLC39A13. Am. J. Hum. Genet. 82: 1290-1305.
  8. Howard R et al (2020) Ruptured ulnar artery aneurysm in vascular Ehlers-Danlos syndrome. J Vasc Surg Cases Innov Tech 6:71-74.
  9. Olubajo F et al (2020) Vascular Ehlers-Danlos Syndrome:Literature review and surgical management of intracranial vascular complications. Clin Neurol Neurosurg 193:105775.
  10. Tinkle B et al (2017) Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and naturalhistory. At J Med Genet C Semin Med Genet 175:48-69.
  11. Micale L et al (2019) Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome. Genes (Basel) 10: doi: 10.3390/genes10120967.
  12. Velvin G et al (2019) Physical exercise for people with hereditable thoracic aortic disease. A studyof patient perspectives. Disabil Rehabil 17:1-8.

Authors

Last updated on: 29.10.2020