Reduced volume of the testicle (the male gonad).

Hypoplasia of the kidney.

Developmental hypoplasia of the ovary.

Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.

The legs angle inward, such that the knees are close together and the ankles far apart.

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

Excessive fat around the stomach and abdomen.

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 the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.

Steatosis is a term used to denote lipid accumulation within hepatocytes.

Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.

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

Atrophy (wasting) of the cerebellar cortex.

A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.

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

An abnormal increase in the number of leukocytes in the blood.

An increased concentration of nitrogen compounds in the blood.

Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.

Developmental hypoplasia of the eyelid.

Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency.

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

Forward prominence of the entire forehead, due to protrusion of the frontal bone.

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 morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.

Increased prominence or roundness of soft tissues between zygomata and mandible.

A noncongenital process of hair loss, which may progress to partial or complete baldness.

Inability to see well at night or in poor light.

Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.

Underdevelopment of the optic nerve.

An eye that is more deeply recessed into the plane of the face than is typical.

Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.