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).

A developmental defect in which a kidney is located in an abnormal anatomic position.

A unilateral form of agenesis of the kidney.

Hypoplasia of the kidney.

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.

Limb shortening because of underdevelopment of one or more bones of the extremities.

An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).

An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).

Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.\n\nIt usually takes many years for symptoms of familial dilated cardiomyopathy to cause health problems. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.

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 type of disproportionate short stature characterized by a short limbs but an average-sized trunk.

Obesity located preferentially in the trunk of the body as opposed to the extremities.

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

A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).

Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.

Peripheral neuropathy affecting the sensory nerves.

A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.

A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.

An abnormal increase in the pitch (frequency) of the voice.

Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.

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

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.

Wasting (atrophy) of the vermis of cerebellum.

An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia.

An axonal neuropathy of peripheral sensory nerves.

An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.

An increase in size of the ventricular system of the brain.

A reduction in erythrocytes volume or hemoglobin concentration.

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

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

Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.

A reduced number of lymphocytes in the blood.

A group of abnormalities characterized by hyperglycemia and glucose intolerance.

Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.

Any deviation from the normal concentration of a lipid in the blood circulation.

An abnormally increased height of the forehead.

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.

Increase in width of the nasal tip.

Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.

Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).

Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base.

Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth.

Anterior positioning of the nasal root in comparison to the usual positioning for age.

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.

Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin.

A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck.

Reduced density of hairs.

Deficiency of thyroid hormone.

Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.

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

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

Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).

An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.