Short (hypoplastic) middle phalanx of finger, affecting one or more fingers.

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).

Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.

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.

The presence of an abnormal lateral curvature of the spine.

A general term describing features characterized by abnormal development of bones and connective tissues.

Absence of one half of the vertebral body in the thoracic spine.

Vertical bony ridge positioned in the midline of the forehead.

A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.

Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM).

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