Spondylodysplastic EDS (spEDS)

ESTIMATED PREVALENCE: <1 in 1,000,000 [54]

INHERITANCE PATTERN: Autosomal Recessive

SYMPTOMS:

The symptoms unique to Spondylodysplastic EDS (spEDS) are short stature, muscle hypotonia (weak muscle tone), thin or scarce hair of the scalp and eyebrows (osteopenia), delayed motor development, and bowing of the arms and/or legs. However, spEDS also contains features that are central to other subtypes of EDS, including skin features, such as hyperextensibility, soft, almost doughy or translucent-looking skin, and abnormal scarring. Additionally, there may be small joint hypermobility and stretchy connective tissue.

DIAGNOSTIC CRITERIA [55]:

To diagnose spEDS, the following formula must be satisfied:

Major Criterion #1 + Major Criterion #2 + Radiographic Evidence + three (3) Minor Criteria

To diagnose spEDS, a patient must have Major Criterion #1 (short stature), plus Major Criterion #2 (congenital muscle hypotonia), plus radiographic evidence of musculoskeletal abnormalities, plus three (3) Minor Criteria (either gene-specific or in general). Ultimately, molecular testing is used to confirm the diagnosis.

Major Diagnostic Criteria

• Short stature (progressive in childhood)
• Muscle hypotonia (ranging from severe congenital, to mild later-onset)
• Bowing of limbs

Minor Diagnostic Criteria

• Skin hyperextensibility, soft, doughy skin, thin translucent skin
• Pes planus
• Delayed motor development
• Osteopenia
• Delayed cognitive development

Genetic Markers:

B4GALT7

B3GALT6

SLC39A13