Glossary D-O

Developmental Delay: Obvious delay at reaching the usual early childhood milestones.

Dysmorphic Features: When one is born with major and/or minor congenital malformations.

Epicanthic Fold: Vertical skin fold at the inner corner of the eye.

Fetal Pads: Prenatal pads on fingertips that are sometimes retained after birth.

FG Personality: Outgoing, whimsical, eager to please personality with a tendency to become “unglued” and to tantrum.

Food Bolting: Habitually eating too fast, taking large bites and not chewing properly before swallowing. At least two deaths have been attributed to suffocation from choking in the FG Population.

Frontal Bossing: Prominent forehead.

Hirschsprung Disease: This is a congenital disorder which causes chronic constipation because of decreased or absence of nerve-endings in the bowels. For more information, visit this Hirschsprungs Site.

Hydrocephalus: An abnormal accumulation of spinal fluid in the ventricles of the brain. This can be caused by the overproduction of fluid, the blockage of fluid circulation, a lack of fluid reabsorption, or when a mixture of these conditions is present.The fluid must be removed via a shunt which is surgically placed in the brain.

Hypertelorism: Unusually wide set eyes with flat bridge to the nose.

Hypotonia: Decreased, “floppy” muscle tone.

Hypospadias: Abnormality of the penis where the opening of the urethra is not located at the tip of the glans.

Imperforate Anus: A congenital defect in which the opening to the anus is missing or blocked.

Impulsive Control Disorder: Inability to resist an impulse, drive or temptation, feeling tension prior to the act & released tension while committing it.

Intrauterine Growth Retardation: Inadequate fetal growth that produces a baby that is too small for gestational age.

Inguinal Hernia: Protrusion of soft tissue through a weak or open spot in the abdominal wall.

Joint Contractures: Shortening of muscles, tendons or connective tissues resulting in decreased joint mobility.

Kyphosis: a curving of the spine that causes a bowing of the back, which can lead to a hunchback or slouching posture.

Laryngomalacia: Softening of the larynx (voice box and vocal cords)

Macrocephaly or Megalocephaly: Larger than normal head size.

MED12: Gene associated with FGS1 (Opitz-Kaveggia)

Megalencephaly: Larger and heavier than normal brain.

Mental Retardation: Having a significantly lower IQ and functioning level.

Nystagmus: Involuntary, rapid and rhythmic movement of the eyes.

Obsession: Intrusive ideas, thoughts or images that are experienced as senseless or repugnant.

Obsessive Compulsive Disorder (OCD): Recurrent and persistent obsessions and/or compulsions.

Opitz-Kaveggia Syndrome: Name given to the FGS1 condition; with gene cloned at MED12.

Oppositional Defiant Disorder:Characterized by abnormally disobedient, hostile and defiant behavior toward authority figures.

Organic Behavior Disorder: Behavior issues resulting from organic, not environmental causes.

Otitis Media: Inflammation of the middle ear.