The Clinical Presentation of Ehlers-Danlos Syndrome

Elizabeth J. Lawrence, RNC, MSN, NNP


Adv Neonatal Care. 2005;5(6):301-314. 

In This Article

Differential Diagnosis of EDS

There are many varieties of EDS making the differential diagnosis challenging. Other causes of hypotonia or fragile skin must also be considered. These include:

  • Cutis laxa syndromes (inelastic skin that hangs in redundant folds)

  • Marfan syndrome

  • De Barsy syndrome (acrogeria, mental retardation)[10]

  • Familial joint hypermobility syndrome

  • Tenascin X deficiency

In adults the joint pain and fatigue associated with hypermobility-type EDS can be misdiagnosed as chronic fatigue syndrome, hypochondriasis, or depression.[25] Vascular-type EDS may also be confused with the kyphoscoliosis type.

Diagnosis of EDS is based on family history and clinical examination.[1,2,3,10,25,28,35] The presence of 1 or more major criteria is necessary for clinical diagnosis.[35] Minor criteria are less specific indicators; however, the presence of 1 or more minor criteria aids in delineating the specific type of EDS.[1,2,10,25,28,35]

If the infant has suspicious findings, explore the family history to identify any other family members who have major or minor diagnostic criteria of EDS ( Table 2 ). The physical manifestations of EDS evolve over time (Fig. 7A-F). See Sidebar 1 for one family's story. A genetics referral, along with a complete pedigree and careful examination of parents, siblings, or other family members may be useful. This will allow the care team to focus concerns to a specific type of EDS using the major and minor diagnostic criteria.

Diagnosis should be confirmed by laboratory testing whenever possible.[1,2,10,25,28] Obtaining the correct biochemical or molecular genetic tests is the final step in the diagnostic process. A skin biopsy will show structural defects in the pro-alpha1 or pro-alpha2 type III collagen.[1,29] Classical-type EDS will have abnormal electrophoretic mobility of the collagen.[1]

The series of pictures of David Daniel Bowen III, who has vascular-type EDS, provide a very real face to a rare syndrome. The features of EDS may not be immediately recognizable in infants at birth; however, caregivers may note the compatible features in the parents, siblings, or other family members. The physical features often become more prominent over time; Fig 7A-F illustrate the changing face of EDS over time.(A) Birth photograph. Note the large eyes, lobeless ears, and small mouth. David also had bilateral inguinal hernias, hydroceles, cryptorchidism, and hypospadius that were corrected at 6 months of age.(B) David at 5 months of age. Again note the characteristic lobeless ears; his earlobe appears to attach directly to the head.(C) David at 2 years of age; note the thin pinched appearance to his nose that is more prominent now that he has lost his "baby fat." The lobeless ears are still apparent.(D) David at age 5, playing in the bathtub; note the thin skin and prominent veins on his chest wall.(E) David in 6th grade; note how his face has evolved, his nose now has the more classic pinched appearance. He also has strikingly large eyes and thin lips.(F) David at age 13.5 years of age: The eyes, nose, lips, and ears are all consistent with vascular-type EDS. David ultimately died from complications related to surgery for spontaneous bowel perforation. He was not seen by a geneticist until days before his death. At that time the diagnosis of EDS was suspected and later confirmed by biopsy (EDS Type IV). Genetic testing of mother, father, and a female sibling were all negative suggesting a spontaneous new mutation of EDS. David's memory lives on. His mother continues to be a strong advocate striving to increase education and awareness of EDS around the world. Photographs courtesy of David's mother Cathy Bowen, with permission.


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