Abnormally high level of calcium in the urine.

Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.

The presence of developmental dysplasia of the kidney.

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).

A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.

An abnormal shortening of the femur.

A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.

Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).

Abnormally wide (broad) distal phalanx of finger.

In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.

Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.

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).

An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment.

A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.

A degree of language development that is significantly below the norm for a child of a specified age.

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

A reduction in erythrocytes volume or hemoglobin concentration.

The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear.

Developmental hypoplasia of the mandible.

The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.

Generalized muscular hypotonia (abnormally low muscle tone).

Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).

Changes in alignment of teeth in the dental arch

Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.

The palpebral fissure inclination is more than two standard deviations below the mean.

Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.

Diminished length of the neck.

Posterior positioning of the nasal root in relation to the overall facial profile for age.

Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.

Absence of concavity or convexity of the face when viewed in profile.

Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.

Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).

Uvula separated into two parts most easily seen at the tip.

Meeting of the medial eyebrows in the midline.

The presence of excess amniotic fluid in the uterus during pregnancy.

A larger than usual distance between the left and right nipple.

A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.

A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.