Description

A patient with Ehlers-Danlos syndrome may have one or more dysmorphic facial features.


Facial changes that can be seen with Ehlers-Danlos syndrome:

 

Changes in and around the eyes:

(1) epicanthal folds

(2) short, downward slanting palpebral fissures

(3) infraorbital creases

(4) drooping lower eyelids

(5) strabismus

(6) hypertelorism

(7) blue sclerae

(8) thick eyebrows

 

Changes in facial skin:

(1) atrophic scars with striae, especially on the forehead

(2) skin hyperextensibility

(3) premature skin aging as an adult with excessive facial wrinkling and skin sagging

(4) molluscoid pseudotumors

(5) easy bruisability

 

Changes in nose and mouth:

(1) short nose with hypoplastic columella

(2) small mouth with thin lips

(3) long philtrum

(4) high arch palate

(5) dental malocclusion

(6) micrognathia

(7) hypermobility of temporomandibular joint

 

Other changes:

(1) low-set, slanted ears

(2) large fontanelle in neonate


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