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

Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.

Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.

A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.

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.

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

A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.

Inflammation of a joint.

Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.

Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.

Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.

Inflammation of any part of the lung parenchyma.

Narrowing of a tear duct (lacrimal duct).

An abnormal morphology (form) of the face or its components.

Diminished length of the neck.

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

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

Flatness of the supraorbital portion of the frontal bones.

Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective).

Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

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.