The presence of calculi (stones) in the kidneys.

An increased concentration of dermatan sulfate in the urine.

The legs angle inward, such that the knees are close together and the ankles far apart.

An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle.

The presence of a stenosis (narrowing) of the aortic valve.

Enlargement or increased size of the heart left ventricle.

An abnormally increased thickness of a leaflet of the aortic valve.

Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.

The presence of an abnormal lateral curvature of the spine.

Increased width (cross-sectional diameter) of the clavicles.

A flattened vertebral body shape with reduced distance between the vertebral endplates.

A type of disproportionate short stature characterized by a short trunk but a average-sized limbs.

Increased width of ribs

An excessive concavity of the posterior surface of one or more vertebral bodies.

Anterior tongue-like protrusions of the vertebral bodies.

Ribs that are increased in width and taper to the posterior ends.

Congenital dysplasia of the hip (CDH) is an abnormality of the seating of the femoral head in the acetabulum. Its severity ranges from mild instability of the femoral head with slight capsular laxity, through moderate lateral displacement of the femoral head, without loss of contact of the head with the acetabulum, up to complete dislocation of the femoral head from the acetabulum. It is one of the most common skeletal congenital anomalies (summary by Sollazzo et al., 2000). Acetabular dysplasia is an idiopathic, localized developmental dysplasia of the hip that is characterized by a shallow hip socket and decreased coverage of the femoral head. Its radiologic criteria include the center-edge angle of Wiberg, the Sharp angle, and the acetabular roof obliquity. Most patients with acetabular dysplasia develop osteoarthritis (165720) after midlife, and even mild acetabular dysplasia can cause hip osteoarthritis (summary by Mabuchi et al., 2006). CDH occurs as an isolated anomaly or with more general disorders represented by several syndromes and with chromosomal abnormalities such as trisomy 18 (Wynne-Davies, 1970). Genetic Heterogeneity of Developmental Dysplasia of the Hip Developmental dysplasia of the hip-1 (DDH1) maps to chromosome 13q22; DDH2 (615612) maps to chromosome 3p21. DDH3 (620690) is caused by mutation in the LRP1 gene (107770) on chromosome 12q13.

Increased space between two adjacent teeth in the same dental arch.

Visible space between the dental arches in occlusion.

Increased spaces (diastemata) between most of the teeth in the same dental arch.

Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.

Increased breadth of the nasal bridge (and with it, the nasal root).

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.

Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humor, which is normally transparent.