A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention.

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

In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.

A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.

The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.

A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum.

A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

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 deficiency or slowing down of growth pre- and postnatally.

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

Abnormally increased size of the liver.

Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.

Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.

Reduced ability of the liver to perform its functions.

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

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

Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.

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.

Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.

Underdevelopment of the corpus callosum.

Reduction of neurologic reflexes such as the knee-jerk reaction.

Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.

Delayed myelination.

A profound delay in the achievement of motor or mental milestones in the domains of development of a child.

Developmental hypoplasia of the mandible.

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.

An abnormality in which the mandible is mislocalised posteriorly.

The presence of skeletal muscular atrophy (which is also known as amyotrophy).

Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms.

Generalized muscular hypotonia (abnormally low muscle tone).

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

Respiratory failure in the newborn.

Impairment of gas exchange within the lungs secondary to a disease process, neoplasm, or trauma, possibly resulting in hypoxia, hypercarbia, or both, but not requiring intubation or mechanical ventilation. Patients are normally managed with pharmaceutical therapy, supplemental oxygen, or both.

Abnormal increased size of the spleen.

Increased susceptibility to infections.

A decreased concentration of glucose in the blood.

The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.

An abnormally high concentration in the circulation of alanine aminotransferase (ALT).

An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.

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

Tongue extending beyond the alveolar ridges or teeth at rest.

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.

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

Diminished length of the neck.

Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.

Increased width of the skin of vermilion border region of upper lip.

Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).

Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella.

Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.

A forehead with abnormal flatness.

Hypertrichosis is increased hair growth that is abnormal in quantity or location.

The presence of nipples that instead of pointing outward are retracted inwards.