- Skeletal dysplasia (HP:0002652): A general term describing features characterized by abnormal development of bones and connective tissues. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85170)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85170)
- Narrow iliac wing (HP:0002868): Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85170)
- Fibular aplasia (HP:0002990): Absence of the fibula. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85170)
- Mesomelia (HP:0003027): Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85170)
- Flared radial metaphysis (HP:0004018): The presence of a splayed (i.e.,flared) metaphyseal segment of the radius. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85170)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85170)
- Broad tibial metaphyses (HP:0006413). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85170)
- Hypoplasia of proximal radius (HP:0006434): Proximal radial shortening owing to a congenital defect of development. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85170)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85170)
- Glenoid fossa hypoplasia (HP:0006633): Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85170)
- High iliac wing (HP:0008808): Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85170)
- Metatarsus valgus (HP:0010508): A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85170)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85170)
- Elbow dislocation (HP:0003042): Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85170)
These phenotypes are associated with the disease Mesomelic dysplasia, Savarirayan type (ORPHA:85170).