Spondylodysplastic EDS

Craniofacial features

Spondylodysplastic EDS can be associated with characteristic facial features. Reported features include prominent or wide-set eyes, a flat midface, and other subtle differences in facial shape. These vary between the genetic subtypes and between individuals.

Short stature

Short stature means a height noticeably below the typical range for age. It is a consistent feature of spondylodysplastic EDS, where the growth of the bones and skeleton is affected. The degree varies between people and between the genetic subtypes.

Mild craniofacial surface abnormalities

Joint hypermobility

Joints that move well beyond the normal range, affecting many joints throughout the body rather than just one or two. In the rare EDS types this is present from birth and is often severe, contributing to joint instability, pain, and frequent sprains.

Bowing of limbs

Bowing refers to a curved shape of the long bones of the arms or legs, rather than a straight one. In spondylodysplastic EDS it reflects the altered growth and structure of the bones. The degree of bowing varies between individuals.

Foot deformities

Several rare EDS types are associated with differences in the shape or position of the feet, present from birth or developing over time. One example is club foot (talipes equinovarus), in which the foot is turned inward and downward. These differences arise from the lax connective tissue and altered muscle balance around the developing foot.

Multisystem abnormalities

Some rare EDS types, including spondylodysplastic EDS, can affect several body systems at once because connective tissue is present throughout the body. This can mean a combination of features involving the skeleton, skin, eyes, and other organs. The exact pattern differs between individuals and subtypes.

Skin abnormalities

Several rare EDS types involve changes in the skin, which may be soft, thin, stretchy, or fragile depending on the type. These reflect the central role of collagen and connective tissue in giving skin its strength and texture. The specific features vary between types and individuals.

Hyperopia

Hyperopia, or farsightedness, means that near objects appear blurred while distant ones are clearer. It is reported as a feature of spondylodysplastic EDS, where the shape and structure of the eye can be affected. It reflects the involvement of connective tissue in the eye.

Hypotonia

Hypotonia means reduced resting tension in the muscles, so the body can feel floppy and joints offer less natural resistance to movement. In infants it may be noticed as difficulty with head control or a loose, relaxed posture. It is a common early feature of several rare EDS types and can contribute to delays in reaching motor milestones.

Nephro/hydronephrosis

Nephropathy means disease affecting the kidneys, and hydronephrosis is swelling of a kidney when urine cannot drain away properly. These features are reported in spondylodysplastic EDS and reflect the involvement of the urinary system’s connective tissue. The degree of involvement varies between individuals.

Dental abnormalities

Some rare EDS types are associated with differences in the teeth, such as variations in their shape, structure, or enamel. These reflect the role of connective tissue in the development of the teeth and surrounding tissues. The specific findings differ between types and individuals.