Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.

Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).

An eye that is protruding anterior to the plane of the face to a greater extent than is typical.

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

Gliosis is the focal proliferation of glial cells in the central nervous system.

Protrusion of the contents of the abdominal cavity through the inguinal canal.

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

Meckel's diverticulum is a congenital diverticulum located in the distal ileum.

Developmental hypoplasia of the mandible.

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

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.

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

Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger).

A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.

Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.

Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.

Underdevelopment of the corpus callosum.

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 abnormal narrowing of the external auditory canal.

The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.

Increased length of the clavicles.

Diminished length of the neck.

Underdevelopment of the radius.

Reduced diameter of a long bone.

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

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).

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

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.

Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.

Underdevelopment of the ulna.

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

Irregularity of the normally smooth surface of the metaphysis at the proximal end of the humerus (at the shoulder).

Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).

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

Underdevelopment of the bony pelvis.

Reduced density of hairs.