Fact-sheet: Spondyloepiphyseal dysplasia
Updated on 02/26/2021 at 2:43 PM
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Definition
Type 2 collagenopathy
Autosomal dominant transmission
Short stature identified at birth
Adult height: approximately 1.35 m
Clinical features
Short trunk and limbs
No facial dysmorphism (differential diagnosis: Kniest dysplasia)
Severe myopia often associated
Severe hip involvement (flexion contracture, hypoplastic femoral necks, poorly or non-ossified epiphyses) associated with pelvic tilt and lumbar hyperlordosis worsens the functional prognosis
Radiography
- Ovoid, trapezoidal, or pear-shaped appearance of the vertebrae at birth due to reduced height of their posterior border, later replaced by platyspondyly
- Globular, barrel-shaped chest
- Shortening of the long bones
- Delayed epiphyseal ossification (femur, ilio-ischiopubic ramus)
Differential diagnosis
Kniest dysplasia
