Abnormally late or absent menarche in a female with normal secondary sexual characteristics.

Underdevelopment of the uterus.

Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.

Limb shortening because of underdevelopment of one or more bones of the extremities.

Short (hypoplastic) phalanx of finger, affecting one or more phalanges.

Absence of the fibula.

Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.

A toe that appears disproportionately short compared to the foot.

Bilateral clubfoot deformity.

Abnormally short finger associated with developmental hypoplasia.

A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.

Underdevelopment of the ulna.

A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length.

Absence of the proximal phalanx of the 2nd finger.

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

Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).

Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).

A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.

An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).

Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.

An elevated concentration of follicle-stimulating hormone in the blood.

An elevated concentration of luteinizing hormone in the blood.