Joint pain.

Lateral deviation of the great toe (i.e., in the direction of the little toe).

Abnormal positioning in which the elbows are turned out.

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.

Increased thumb width without increased dorso-ventral dimension.

Hypoplasia (congenital reduction in size) of the thumb.

An abnormally increased extension of the knee joint, so that the knee can bend backwards.

An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).

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

Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.

Abnormally broad metacarpal bones.

Short palm.

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).

A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.

Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil Syndrome Additional forms of KFS include autosomal recessive KFS2 (214300), caused by mutation in the MEOX1 gene (600147) on chromosome 17q21, autosomal dominant KFS3 (613702), caused by mutation in the GDF3 gene (606522) on chromosome 12p13, and autosomal recessive KFS4 (616549), caused by mutation in the MYO18B gene (607295) on chromosome 22q12. See also MURCS association (601076), in which Klippel-Feil anomaly is associated with urogenital anomalies.

Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.

Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.

A reduction in the freedom of movement of one or more joints.

Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue.

Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing.

A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.

The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.

Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.

Reduction in the vertical distance between the upper and lower eyelids.

A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.