Table 2. [Schmid Metaphyseal Chondrodysplasia: Frequency of Select Clinical and Radiographic Features]. - GeneReviews®

Features	% of Persons w/Feature	Comment
Clinical	Waddling gait	>80%
Genu varum	>80% ¹	Genu valgum less commonly reported
Short stature	>60%	Typically apparent by age 2 yrs
Lumbar lordosis	>60% ¹	Scoliosis less commonly reported
Radiographic	Metaphyseal dysplasia of proximal/distal femora, proximal tibiae	~100%	Splaying, flaring, widening, cupping
Cupped &/or sclerotic anterior rib ends	>90%
Coxa vara	50%-80% ^1, 2	Angle head & shaft of femur <120 degrees
Short long bones	>60%	Typically apparent by age 2 yrs
Metaphyseal dysplasia of hands	33%-47% ^1, 3	Metaphyseal cupping, short proximal phalanges/metacarpals
Vertebral dysplasia	9% ²	Usually mild; platyspondyly, anterior rounding, indentations, & posterior wedging

From: Schmid Metaphyseal Chondrodysplasia

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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