Severe distention of the kidney with dilation of the renal pelvis and calices.

Agenesis, that is, failure of the kidney to develop during embryogenesis and development.

A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.

Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as "Symphalangism".

Abnormally wide (broad) distal phalanx of finger.

The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand.

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).

A reduced desire to eat.

Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura).

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.

A shaky or wobbly manner of walking.

Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg.

Underdevelopment of the corpus callosum.

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

Loss of developmental skills, as manifested by loss of developmental milestones.

A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.

Underdevelopment of the vermis of cerebellum.

An abnormal dilatation of the fourth cerebral ventricle.

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.

An arachnoid cyst located within the ventricular system.

A failure to meet one or more age-related milestones of social behavior.

A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands.

Developmental hypoplasia of the mandible.

A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.

Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.

The presence of an abnormal lateral curvature of the spine.

The presence of a hernia of the diaphragm present at birth.

Head circumference below 2 standard deviations below the mean for age and gender.

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

An abnormally increased height of the forehead.

Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).

Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.

Decreased density/number of eyebrow hairs.

Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).

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

Decreased number of hairs per unit area of skin of the scalp.

Decreased density/number and/or decreased diameter of lateral eyebrow hairs.

Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.

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

A type of mild median cleft lip in which the central tubercle of the upper lip is replaced by a mucosal cleft in the midline.

A condition in which the skin can be stretched beyond normal, and then returns to its initial position.

A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.

Underdevelopment of the toenail.

A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear).

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