Table 2. [EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity: Frequency of Select Features]. - GeneReviews®

Feature	Proportion of Persons w/Feature	Comment
Clinical manifestations	Joint dislocations	7/7	Primarily hips & knees
Joint laxity	7/7
Short stature	7/7	Postnatal onset
Slender fingers	7/7
Genu valgum	6/7
Pes planus	4/7
Spine manifestations	6/7	Scoliosis, kyphosis, short neck, &/or hyperlordosis
Barrel-shaped chest	2/7
Radiographic findings	Delayed carpal bone ossifications	7/7
Gracile, short tubular bones (leptodactyly)	6/7
Metaphyseal dysplasia	6/7
Epiphyseal dysplasia	6/7
Slender ribs	4/7
Irregular vertebral end plates	3/7
Narrow interpedicular distance of lumbar vertebrae	3/7
Platyspondyly	2/7

From: EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity

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