Glossary of Terms

Here is an alphabetical list of medical terms and other words or phrases you may encounter while seeking healthcare:

Acromelic
pertaining to the ends of the extremities
Adenoidectomy
surgical removal of adenoids
Adenoids
lymphatic tissue forming a prominence of the wall of the pharyngeal recess of the nasopharynx
Ambulation
walking
Amniocentesis
removal of amniotic fluid by syringe placed through uterus and amniotic membrane for the use of genetic testing or testing of fetal lung maturity.
Ankylosis
immobility of a joint
Anterior
before or in front of; in anatomy; the abdominal side of a person
Atlantoaxial instability
instability of the union between the first and second cervical vertebrae
Atrophy
a wasting or decrease in size
Audiology
assessment of hearing
Autosomal dominant
referring to inheritance of a genetic trait; a trait that is expressed whenever the gene is present and unrelated to the sex of the individual
Autosomal recessive
referring to inheritance of a genetic trait, a trait that is only expressed when an individual has both genes for this trait and unrelated to the sex of the individual
Avascular necrosis (Legg Perthes)
death of tissue or bone due to lack of blood supply
Benign
not harmful, not recurrent or progressive
BiPAP
bilevel positive airway pressure; a way to provide adequate oxygen to a person with sleep apnea
Bone age
an estimate of biological age based on radiological findings. May be used to determine how much more growth potential an individual has.
Brachydactyly
abnormal shortening of fingers and/or toes
C-PAP
continuous positive airway pressure; a treatment for sleep apnea which works to increase the level of oxygen saturation of the blood during sleep
Camptodactyly
permanent flexion (bent) of fingers or toes
Cartilage
a connective tissue that forms part of the skeleton; provides a model embryologically in which most bones develop
Cataract
opacity (unclear) of the lens of the eye causing severe visual impairment
Central apnea
temporary cessation (stopping) of breathing due to a problem related to the central nervous system (brain)
Cerebrospinal fluid (CSF)
a water cushion surrounding the brain and spinal cord protecting them from physical impact. Excess amounts of CSF or decreased flow of CSF between the brain and spinal cord can be indicators of a neurological problem.
Cervical
pertaining to or the region of the neck
Cervicomedullary junction
the junction between the base of the skull and brain stem and the cervical spine and spinal cord.
Chorionic villus sampling (CVS)
a prenatal test in which small pieces of the placenta are removed to genetically test the fetus.
Chromosome
the packages of material in the nucleus of every cell made up of DNA in which an individual's genes are encoded.
Chronic
ongoing; denoting a disease that is long term or life long with slow progression
Cleft palate
a palate (roof of the mouth) with a congenital opening
Clinical
description of information founded directly on observation and treatment of patients.
Clonus
a neurological finding observed as a spasmodic reflex in the ankle due to a compression or injury of the spinal cord.
Club feet
a congenital malformation of the feet in which they are rotated in and on the side towards to the other foot. This is usually treated with corrective casting.
Collagen
a protein found in connective tissue of multiple systems of the body.
Computed tomograpy scan (CT scan or CAT scan)
a technology for quickly imaging bone, soft tissue and blood vessels
Conductive hearing loss
hearing loss due to some type of blockage or structural abnormality of the ear which prevents the sound waves from reaching the inner ear.
Congenital
present at birth.
Connective tissue
tissues of the body that bind together bones, muscles and other body parts.
Corneal clouding
clouding of the outer layer of the eyeball due to deposits of a cellular material
Coxa vara
a deformity at the hip joint that occurs when the head of the femur is at an angle of less than 120 to the shaft of the femur, causing the femur to not fit into the hip socket correctly
Craniofacial
pertaining to the skull and face
Decompression
the removal of pressure. In skeletal dysplasias, most often refers to a surgical procedure performed on the spine to reduce pressure on the spinal cord created by the abnormally formed vertebrae and skull.
Deep tendon reflexes
a reflex which can indicate pressure on or injury of the spinal cord.
Degenerative
a cause of progressive deterioration
Desaturation
a process by which the blood is not carrying as much oxygen as it optimally could
Diagnostic
pertaining to a diagnosis; usually refers to a characteristic or criteria which is critical for a specific diagnosis.
Disproportionate (short stature)
a size or ratio different from what is considered to be normal. Disproportionate short stature is when one part of the body (e.g. the trunk) is short in comparison to another part (e.g. the limbs)
Distal
farthest from the center (i.e. the hands are distal in relation to the upper arm (humerus))
Dysplasia
abnormal development of tissue (including bone, muscle, etc.)
Ear, Nose and Throat
see Head and Neck Surgery
Enamel hypoplasia
underdevelopment or lack of development of tooth enamel
Endotracheal
of the trachea (tube which connects larynx to lungs for the purpose of breathing)
Enzyme
a cellular substance which facilitates a specific chemical reaction. When an enzyme is missing or in decreased quantity, the specific reaction plus all those that occur subsequently (as part of a chain of reactions) will not occur correctly or at all and therefore subsequent physiologic problems will arise
Epiphyseal
of the epiphysis; the epiphysis is the center of ossification at the end of the long bones
Eustachian tube
auditory tube that connects the ears to the nasopharynx. Eustachian tube dysfunction results in poor drainage from the ears to the nasopharynx
Extension
movement that pulls apart both ends of any part
Femur
long (upper) bone of the thigh
Fibula
outer and smaller bone of the lower leg (calf)
Flexion
act of binding or condition of being bent decreasing the angle between the bones forming a joint.
Flexion contractures
the fixation of a joint in a fixed position (inability to fully straighten or extend at a joint)
Foramen magnum
opening at the base of the skull through which the spinal cord passes from the brain into the spinal column
Frontal bossing
prominence of the forehead
Fusion
union/coming together of two body parts; two permanently joined body parts which were previously separate due to natural processes or surgical intervention (e.g. fusion of cervical vertebrae to provide stability).
Gait
the way in which a person walks
Gastresophageal reflux (GE reflux)
a return or backward flow of stomach contents up through the esophagus
Gene
regions of DNA that code for proteins, which determine an individual's development and traits and are inherited from generation to generation
Genetics
pertaining to genes and reproduction
Genu valgus
knock knees; in turning of legs that bring knees close together or possibly touching while standing and/or walking. Knock knees has to do with how the knee lines itself up with the hip and ankle. In a child with knock knees though, when the knees touch, the ankles are separated by a good distance.
Genu varum
bowlegged; curvature of the legs resulting in increased space between the knees usually due to the overgrowth of the fibula in relation to the tibia. The fibula "bows" in order to accommodate for the shorter tibia.
Germline mosaicism
the presence of reproductive cells (sperm or egg) of different genetic make-up. For example, an average-statured parent may some reproductive cells with the mutation for achondroplasia. This would give them a chance of having more than one child with achondroplasia.
Gibbus
wedging of vertebra in a kyphotic curve of the spine.
Head and Neck surgery
medical specialty previously called ENT (ear, nose and throat) that focuses on the surgical management of issues of the head and neck
Heterozygous
two different versions of a specific gene. As in achondroplasia, one gene without a mutation and one with the mutation for achondroplasia.
Homozygous
having two identical versions of a specific gene. Homozygous or double dominant achondroplasia occurs when a child has two copies of the gene for achondroplasia
Humerus
bone of the upper arm connecting the shoulder to the elbow.
Hydrocephalus
increased accumulation of cerebrospinal fluid (CSF) within the ventricles fo the brain. Can indicate a blockage to the flow of CSF.
Hypermobility
excessive joint movement that permits increased mobility (flexibility)
Hyperreflexia
increased action of the reflexes; can be an indicator for a neurological complication
Hypertelorism
abnormally increased distance between eyes
Hypertrophy
increased in size of an organ or body structure
Hypophosphatemia
abnormally decreased amount of phosphate circulating in blood
Hypoplasia
underdevelopment of tissue or organ
Hypopnea
episode of decreased rate and depth of breathing
Hypotonia
decreased or low muscle tone
Intubation
insertion of a tube into any organ; usually refers to insertion of a tube in the larynx/trachea to provide air for respiration.
Ischemia
local, temporary deficiency of blood supply due to obstruction
Joint dislocation
temporary displacement (usually) at the point of juncture between two bones of a bone from its usual position in the joint
Kyphosis
an exaggeration or angulation of the normal posterior curve of the spine; an outward curve of the mid spine
Laminectomy
the surgical excision (removal) of a vertebral posterior arch. In skeletal dysplasias, this is most often done to decrease pressure on the spinal cord at that level.
Ligament
strong fibrous connective tissue which connects the end of the bones at a joint and binds them together, facilitating or limiting motion
Ligamentous laxity
looseness of the ligaments
Lumbar
the lower part of the spine/back but not including the vertebrae that extend into the pelvis
Lumbosacral
pertaining to the region of the spine including the lumbar and sacral vertebrae
Macrocephaly
abnormally large size of head. This maybe normal for the child's condition or an indicator or problems with brain development.
Magnetic Resonance Imaging (MRI)
type of diagnostic imaging that uses electromagnetic imaging and allows evaluation of tissues and fluid in addition to bone. This imaging providing two dimensional cuts through the body part being study which allows a physician to develop a three dimensional sense of the anatomy of that part. Often used to study the brain and spine as well as joints.
Malocclusion
malposition and imperfect contact of the mandibular (lower) and maxillary (upper) teeth.
Mandible
horseshoe-shaped bone forming the lower jaw
Maxilla
a paired bone that forms the skeletal base of the upper face, roof of mouth, sides of the nasal cavity and floor of the eye orbits. Part of the maxilla supports the upper teeth and is called the upper jaw.
Mesomelic
shortening of the middle of the bone (usually referring to the long bones)
Metaphyseal
the portion of a developing long bone that is between the diaphysis (shaft) and the epiphysis; the growing portion of the bone
Micromelic
with significantly short or small limbs
Middle ear effusion
escape of fluid into the middle ear (behind the eardrum).
Midface hypoplasia
underdevelopmemt or undergrowth of the midface (between, but not including, forehead and mandible)
Milestones (developmental)
a significant development event or accomplishment, such as sitting, walking, talking, etc. There are standards for accomplishing developmental milestones by age. Children with skeletal dysplasias and other medical conditions may accomplish these milestones at a slower pace or in a different manner than average children.
Mixed hearing loss
hearing loss that is both conductive as well as having a sensorineural component
Mucopolysaccharidoses
a group of rare genetically determined disorders caused by the body's inability to produce certain enzymes, resulting in an abnormal deposit of complex sugars in tissues and cells. This process causes progressive damage which can range in severity from strictly bone and joint involvement to massive complications in all organ systems.
Mutation
a change in a gene potentially capable of being transmitted to offspring and possibly causing a different characteristic or medical condition in an individual
Myelopathy
condition of the spinal cord, usually causing neurologic symptoms and findings.
Myopia
nearsigthedness
Myringotomy
incision of the tympanic membrane (eardrum). Often done for the placement of tubes to encourage draining of fluid caught behind the eardrum and often resulting in recurrent ear infections.
Natural history
the understood course of a medical condition, usually with a wide range of severity between affected individuals
Neurologic
of or pertaining to the nervous system, including the brain, spinal cord and nerves.
Neurology
the medical specialty with expertise in the nervous system
Obstructive apnea
temporary cessation (stopping) of breathing due to a problem related to an obstruction or blockage of oxygen getting to the lungs. Usually due to structural problems of the face and/or neck. In the skeletal dysplasias, common causes include small nasal passages, redundant pharyngeal tissue, large tonsils and/or adenoids.
Occipital frontal circumference
head circumference. The measurement of the distance around the skull. There are standards for head circumference that have been created by age and sex. Achondroplasia has specific growth curves that have been developed for monitoring head circumference.
Odontoid (process)
a toothlike process that stabilizes the connection between the head and the neck. It sticks up through the first and second cervical vertebrae, providing support as the head moves backwards and forwards.
Odontoid hypoplasia
underdevelopment of the odontoid process which can lead to instability of the cervical spine at the junction with the skull
Orthpedics
the medical specialty with expertise in preventing and correcting abnormalities of the skeleton and other supporting structures including joints, muscles, and connective tissue.
Osteoarthritis
arthritis (inflammation of a joint) marked by progressive deterioration of the joints and/or vertebrae
Osteopenia
decrease in the amount of bone tissue
Osteoporosis
disease process that decreases the density of bone, making the bones more susceptible to breaks
Osteotomy
an operation in which the bone is cut through. This type of operation is often used to correct deformities of the legs, such as bowlegs or knock knees.
Otitis media
inflammation and/or infection of the middle ear
Overnight oximetry
see polysomnography
Pectus carinatum
a condition in which the sternum is abnormally prominent or sticks out; pigeon breast
Pectus excavatum
a condition in which the sternum is abnormally depressed
Pelvis
the bony structure that supports the vertebral columns and contains the hip sockets
Pes planus
flat feet
Phalanges
bones of the fingers and toes
Physiatry
medical specialty also known as Physical Medicine and Rehabilitation (curing of medical symptoms by natural methods, such as physical therapy, exercise, heat/cold, etc.
Physical therapy
medical specialty of rehabilitation in order to restore physical function and prevent disability
Platyspondyly
flat vertebrae
Polydactyly
more than 5 fingers and/or toes
Polysomnograpy
continuous study of respiration during sleep
Posterior
referring to in the rear or toward the back; situated behind
Precocious
mental or physical developmental earlier than the average age
Prenatal diagnosis
tests (amniocentesis, ultrasound, chorionic villus sampling (CVS)) used to diagnosis medical conditions in pregnancy
Pressure equalizing tubes (PE tubes)
ventilating tubes; small tubes placed in the eardrum (tympanic membrane) to allow for drainage of fluid that has collected behind the eardrum.
Pronation
changing position to face downward; lying down or turning the arm and hand so that the palm faces downward
Proportionate short stature
short stature in which the trunk and the limbs are in equal or similar proportion
Proximal
near the center
Pulmonary
of or relating to the lungs and respiration
Pulmonary hypoplasia
underdevelopment of the lungs
Pulmonology
the medical specialty of respiration
Radial head dislocation
displacement of the radial head from its usual position in the joint at the point of juncture between the radius and the humerus (elbow)
Radial head subluxation
partial or incomplete dislocation of the radial head
Radiology
the medical specialty of diagnostic imaging and interpretation
Radius
the shorter of the two bones of the lower arm on the side of the thumb
Rehabilitation
the process of treating and training a person with a disability to achieve maximum function and independence.
Restrictive lung disease
decreased pulmonary function secondary to decreased size of the chest cavity and/or lungs
Retinal detachment
separation of the inner sensory layer of the retina to the outer epithelium (outer surface of eyeball) which can lead to blurred vision, light flashes, loss of visual acuity, etc. Individuals with skeletal dysplasias involving connective tissue are usually monitored closely for this complication, as repair may be possible.
Rhizomelic
proximal shortening; shortening at the end of the bone closest to the trunk (humerus, femur)
Rickets
a condition affecting that development of bone either due to a deficiency of vitamin D or a genetic defect leads to the inability to utilize vitamin D. In both cases, the condition can be treated
Sacral
of the lowest part of the spine
Sacrum
the vertebrae complex below the lumbar region of the spine that connects the vertebral column to the pelvis
Scoliosis
a lateral (sideways) curve of the spine usually consisting of two curves - the abnormal one and another to compensate for it.
Sensorineural hearing loss
hearing loss due to a problem with sending signals from the ear to the brain
Sequelae
medical symptoms or conditions that result from having a specific disease. For example, bowed legs and lumbar stenosis are sequelae of achondroplasia.
Sleep apnea
temporary, often repeated, cessation of breathing during sleep
Sleep study
see polysomnography
Somatosensory evoked potentials (SSEP)
study of nerves to assess their functional state
Sporadic
random, occurring occasionally; in genetics, not inherited, new
Subluxation
partial or incomplete dislocation
Supination
the motion of turning of the palm of the hand so that it faces upward
Talipes equinovarus
a deformity of the feet in which the foot is extended and the individual walks on their toes
Thoracic
referring to the chest and middle region of the spine (vertebrae to which the ribs are attached)
Thoracolumbar
region of the spine at the juncture of the thoracic and lumbar vertebrae
Tibia
the inner and larger bone of the lower leg
Tonsillectomy
surgical removal of the tonsils
Trident
having three prongs, resembling a trident fork
Truncal
of or related to the trunk
tympanic membrane
eardrum
Ulna
the longer of the two bones of the lower arm on the side of the 5th finger.
Ultrasound
diagnostic imaging using sound waves. Most often used to evaluate fetuses in utero, but also used for evaluation of the brain and other organs.
Ventriculo-peritoneal shunt (VP shunt)
a medical device placed in a ventricle of the brain and draining to the chest which diverts fluid from the brain and prevents the development of hydrocephalus
Ventriculomegaly
increased size of the ventricles in the brain
X-linked dominant (XLD)
referring to inheritance of a genetic trait; a trait that is expressed whenever the gene is present and is inherited on the X chromosome
X-linked recessive (XLR)
referring to inheritance of a genetic trait; a trait that is expressed whenever the gene is present and depending on the sex of the individual. In XLR conditions, a male will always be affected and females may be unaffected or more mildly affected as they have a second X chromosome which will help to compensate for the abnormality on the other X chromosome.
 
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