The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.

Limited ability to straighten the arm at the elbow joint.

A soft tissue continuity in the A/P axis between fingers 3 and 4.

A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.

Spasticity and weakness of the leg and hip muscles.

Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.

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.

Involuntary protrusions, movements, spams and contortions of the tongue.

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.

Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).

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

Columella extending inferior to the level of the nasal base, when viewed from the side.

Excessive amount of hair growth on forehead.

Increased width of nail.

Underdeveloped nails of the fifth toes.

Presence of more than two nipples.

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.