Congenital anomalies

Ehlers Danlos syndrome

Last author update: 1 May 2013
Last staff update: 23 November 2020

Copyright: 2003-2023,, Inc.

PubMed Search: Ehlers danlos syndrome

Hanni Gulwani, M.B.B.S.
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Cite this page: Gulwani H. Ehlers Danlos syndrome. website. Accessed March 22nd, 2023.
Definition / general
  • Inherited heterogenous group of connective tissue disorders characterized by abnormal collagen synthesis (eMedicine, Wikipedia)
  • Six variants of EDS have been described, based on clinical and molecular features (Am J Med Genet 1998;77:31)
Clinical features
  • Clinical symptoms vary by clinical variant, and include skin hyperextensibility and fragility / poor healing; joint hyperextensibility with a propensity to dislocation; eye symptoms with corneal rupture and retinal detachment; kyphoscoliosis and rupture of the colon and large arteries

Vascular type (type IV):
  • Autosomal dominant; caused by a mutation in COL3A1 gene (J Nippon Med Sch 2008;75:254)
  • Three distinct types of mutations, which affect either the rate of synthesis, the secretion of type III procollagen or result in structurally abnormal type III collagen
  • Associated with a reduced median survival of only 48 years
  • Neonates have increased incidence of clubfoot and hip dislocation, and rarely have subarachnoid hemorrhage (Am J Clin Pathol 1990;93;579)
  • In children, inguinal hernia, pneumothorax and recurrent joint dislocation or subluxation are common; skin is translucent with visible veins and is easily bruised; distinctive facial features are often present, including protruding eyes, a thin nose and lips, sunken cheeks and a small chin
  • Blood vessels and intestines are typically rich in type III collagen, and adult patients often present with vascular rupture/dissection or gastrointestinal perforation
  • Uterine rupture may occur during pregnancy, particularly at delivery
Case reports
  • No specific treatment
  • Preventative measures are recommended; some patients may improve with high dose Vitamin C
Microscopic (histologic) description
  • Often colonic perforation, with mucosal ulceration and thin bowel wall
  • May have segmental absence of muscularis propria, with replacement by cellular, reactive fibroblastic proliferation
Microscopic (histologic) images

Case #163

9 year old boy with Type IV disease

Additional references
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