An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).

A kind of short stature in which different regions of the body are shortened to differing extents.

A decreased magnitude of the sensory perception of sound.

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.

Obstructive sleep apnea is a common, chronic, complex disease associated with serious cardiovascular and neuropsychologic sequelae and with substantial social and economic costs (Palmer et al., 2003).

Loss of developmental skills, as manifested by loss of developmental milestones.

Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.

Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia.

Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve).

Developmental hypoplasia of the mandible.

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.

Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.

Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.

Reduced rib length.

Decreased inferosuperior length of the sternum.

An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture.

Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones.

Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).

An irregular surface of the vertebral end plates, which are normally relatively smooth.

A flattened vertebral body shape with reduced distance between the vertebral endplates.

Increased width of ribs

Increased density of the bony tissue of the scapula.

The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones.

Increased bone density of the skull base without significant changes in bony contour.

Aplasia of frontal sinus.

Parietal bossing is a marked prominence in the parietal region.

Aplasia of the paranasal sinuses.

Progressive bending or abnormal curvature of a long bone.

An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone.

An increase in bone density within the clavicle.

A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life.

Osteosclerosis affecting one or more bones of the hand.

An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space.

A tooth present at birth or erupting within the first month of life.

Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal.

Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age.

The facial appearance is more circular than usual as viewed from the front.

Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).

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

The absence of six or more teeth from the normal series by a failure to develop.

Partial or complete wasting (atrophy) of the skin.

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.

Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.