Glossary P-Z

P

Palpebral fissures: Opening between upper and lower eyelids.

Pes Planus: Flat feet.

Phenotype: An observable characteristic or trait.

Pilonidal Cyst or cavity:A small pit or sinus near the tailbone – usually harmless, but can become infected &, rarely, may extend to the spinal cord.

Ptosis: Drooping of the eyelids.

Q – R

Reflux: A backward or return flow.

S

Sacral dimple or pit: See Pilonidal Cist.

Scoliosis: Lateral curvature of the spine.

Seizure Disorder: Involuntary activity of the brain manifesting in muscle twitches, convulsions, staring spells, loss of consciousness, etc.

Sensorineural Deafness: Congenital or acquired hearing loss from permanent damage to auditory nerves.

Sensory Integration Dysfunction (SID): Inability to neurologically organize the information received from the body and from the world around us for use in daily life.

Simian Creases: Single crease across palms of hands.

Skewed Inactivation (or “Skewed Lyonization”): when more than the expected 50% of mothers genes inactivate during conception.

Sporadic Case: A new mutation of the gene arising in an individual rather than being passed on by a carrier.

Stridor: Noisy breathing associated with Tracheo/Laryngomalacia.

Subtelomere FISH panel: A blood test in which Fluorescence In Situ Hybridization (FISH) is used to detect microdeletions of the terminal portions (tips) of some chromosomes.

Syndactyly: Webbing of the fingers or toes.

Stenosis: Closure or narrowing of an opening of the body.

Syringomyelia: Chronic disorder where cerebrospinal fluid enters the spinal cord and forms a cavity. (Associated with Chiari I Malformation)

Syrinx: The cavity formed in the spinal cord by accumulation of cerebrospinal fluid.

T

Tethered Cord Syndrome: Condition in which the filum at the base of the spinal column is too tight, resulting for example, in leg pain, urinary/bowel incontinence.

Tracheomalacia: Softening of the trachea.

U – V

Upper Respiratory Infections: Infections of the upper respiratory organs, including ears, airways and lungs.

Ventricular Septal Defect (VSD): Abnormal opening between the right and left ventricles of the heart.

W

Winged Scapulae: Predominant, “pointed” shoulder blades.

X – Z

X-linked recessive condition: Affected gene is passed on the X chromosome by a carrier (usually a mother) to a child (usually a son) who exhibits the traits of the condition.

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