The Clinical Presentation of Ehlers-Danlos Syndrome

Elizabeth J. Lawrence, RNC, MSN, NNP


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

In This Article

Focused Physical Assessment

It is important to identify infants of affected women as high-risk infants. Scrutinize the maternal history and, when possible, determine the specific EDS type of the mother or affected family members. Although there may be variations in presentation, the type will remain consistent and may be useful in predicting risk. Early evaluation of an infant exhibiting major or minor criteria of EDS ( Table 2 ) is a priority. Delivery room resuscitation and respiratory support may be necessary due to prematurity and/or hypotonia.

Compare the infant's overall tone and appearance to expectations appropriate for the infant's gestational age. Infants with classical-type EDS present with intrauterine growth restriction and/or prematurity.[9,34] The infant's general appearance may be similar to that of the infant with classic asymmetrical intrauterine growth restriction, including a normal occipital-frontal head circumference and a body that appears wasted by comparison (Fig 1). In contrast, infants affected with kyphoscoliosis-type EDS have a Marfan-like appearance, where the limbs are disproportionately longer than the rest of the body.[36]

Preterm infant born at 36 weeks gestation. Note the generalized lack of muscle tone and wizened facies characteristic of intrauterine growth restriction. Courtesy of K.H. Franklin. Reprinted with permission.

Examine the quality of the skin. Infants with classical and hypermobile EDS have skin that feels soft and velvet-like, a feature that is lifelong. The skin texture has also been described as doughy.[1,2,7,10] Note the presence, and pattern of distribution of ecchymosis. Dermatosparaxis-type EDS, presents with severe skin fragility and bruising.[1,4,39] Ongoing bruising and skin tears can be misdiagnosed as child abuse.[6]

Both classical and vascular types of EDS are characterized by translucent skin with prominent veins.[1] Relate these findings to norms for gestational age. In vascular-type EDS, veins are clearly visible on the thorax, shoulders, and abdomen.[9,26,27,28] Although the skin is fragile and bruises easily with both types, coagulation studies will be normal.[1,26] Observe for signs of acrogeria (the appearance of aging) on the hands and feet. In vascular-type EDS, the hands and feet may appear wrinkled and old.[1,26,28]

Observe for skin that splits easily, a finding common in classical- and hypermobility-type EDS. Gaping "fish mouth" type scars may occur over bony prominences. Inspect the forehead, chin, elbows, or knees for scarring.[1] The bruising and scarring will become more noticeable as the infant ages and becomes mobile. There are often severe scars, called cigarette paper scars, which resemble papyrus paper (Fig 2).[1,10,16,25] Slow wound healing with scars that widen after healing can be seen during the toddler years (Fig 3).[41] Palpate pressure points for mulluscoid pseudotumors, fleshy lesions associated with scars that develop over the pressure points (e.g., shins).[1,3,6,10]

Note the cigarette paper scars on both knees and the thin and fragile appearance of the skin. Courtesy of and reprinted with permission from, Inc, 2005. Ceccolini E, Schwartz RA. Ehlers-Danlos Syndrome. eMedicine Journal [serial online]. 2005. Available at:

Widened scarring and slow wound healing characteristic of EDS. Courtesy of Jo Husband. Reprinted with permission.

Inspect and palpate for piezogenic papules, which can be seen in classical-type EDS as early as birth. Piezogenic papules are small, soft lumps that appear on the side of the heel when the person is standing but which disappear when the foot is elevated.[1,10] Small, mobile, spherical hard bodies are palpable and may be present on the forearms or shins.[1,2,5,6] These can calcify and be visible on radiographs.[5,10] Spheroids develop over time as subcutaneous fat necrosis occurs.[44]

The skin of an infant with classical-type EDS has hyperextensible or hyperelastic properties not seen as a manifestation of vascular-type EDS.[1,26] To accurately assess for hyperextensible skin, test the skin in a neutral site such as the palm side of the forearm.[1,10] Pull the skin up until resistance is felt. Hyperextensible skin extends easily and snaps back after releasing it. Hyperelasticity is more easily noted at the neck, elbows, or knees (Fig 4).[1] This is in contrast to the presentation of cutis laxa, where the skin lacks elasticity, hangs in loose folds, and does not rebound rapidly after extended.[10] This test may be difficult to perform in newborns because subcutaneous fat may impair the assessment.

Testing for hyperelastic skin at the palm side of the arm. Courtesy of Jo Husband. Reprinted with permission.

The infant with vascular-type EDS has distinctive facial features. Observe for bulging eyes with telangiectasis (dilated capillaries forming a red lesion) on the eyelids.[1,25,26,30] Examine the infant for epicanthal folds (redundant skin folds on the eyelids)[1,41] that may make the nose appear broad.[28] Facial bones may be prominent with sunken cheeks as well as thin, fine upper lips that are unpuckered in appearance.[26] The infant with kyphoscoliosis-type EDS will have scleral fragility. Minor trauma can cause rupture of the ocular globe.[1,35] Examine the size of the eyes, specifically evaluating for small corneas.[1,35,36] Inspect the nose for a proportionately large and thin "pinched" appearance.[26] Inspect the scalp hair distribution, which may be thin in affected infants. Inspect and palpate the earlobes; lobeless ears may be present in infants with vascular-type EDS.[31,41]

Auscultate the lung fields and observe for signs of respiratory distress, such as nasal flaring, grunting, retractions, or decreased air exchange that may indicate a pneumothorax. Newborns with vascular-type EDS are at risk of developing a spontaneous pneumothorax.[28] If a murmur is present in the newborn period, a pediatric cardiology consultation and an echocardiogram are indicated to evaluate for dysplastic valves (mitral and tricuspid), a dilated aorta or pulmonary trunk, or heart failure.[45]

Aortic root dilation has been reported in classical and hypermobile types of EDS in children <15 years old.[19] These cardiac findings were in contrast to former studies where mitral valve prolapse was the most common cardiac finding in EDS.[19] In the absence of cardiac symptoms or a murmur, at a minimum, the aortic root size should be measured by 5 years of age with repeat echocardiograms every 5 years even if the original echocardiogram is normal.[35]

Inspect the abdomen and groin for inguinal hernias or a large umbilical hernia.[1,39] Palpate the abdomen and bladder. Observe for lower abdominal tenderness. If possible, observe the strength of the urinary stream, especially in male infants. A weak urinary stream despite a full bladder associated with tenderness may warrant further investigation. Male children with EDS are at increased risk of giant bladder diverticula, which may cause urethral obstruction.[17]

Examine the feet for talipes equinovarus (clubfoot).[1] Up to 12% of neonates born with vascular-type EDS have a clubfoot and 3% have congenital dislocation of the hips.[26,28,39] Joint hyperlaxity dislocatabilty is a common feature of EDS (Figs 5 and 6).[1,10] Evaluate the infant's overall tone and posture. Assess the joints for stability using Beighton's criteria ( Table 3 ). A score of at least 5 out of 9 defines hypermobility.[1,2,10] Be alert for dislocated hips or shoulders, which may be associated with breech presentation and delivery in infants affected with classical-type EDS.[10,38]

Right ankle hypermobility. The ankle turns inward beyond the normal range of motion. Courtesy of Jo Husband. Reprinted with permission.

Hyperflexible finger in a neonate. Courtesy of David A. Clark. Atlas of Neonatology: A Companion to Avery's Diseases of the Newborn. Philadelphia, Pa: WB Saunders; 2000. Reprinted with permission.

Kyphoscoliosis-type EDS presents with joint laxity and severe muscle hypotonia at birth.[1,4,35,38] Examine the spine carefully. Kyphoscoliosis, characterized by progressive deformity of the spine consisting of lateral and posterior curvatures, is present at birth and progressively worsens.[35,38]


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