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Glossary

Terms and definitions often associated with Proteus syndrome compiled by Susan Beachler

A
​
ADIPOSE – pertaining to fat
ALVEOLAR RIDGES- the part of the jaw containing the tooth sockets
ANAEROBIC- able to live without oxygen
ANISOCORIA – unequal pupil size
ANKYLOSIS – stiff joint
ANOMALY- not normal
ANTERIOR – before; in front of
ASYMMETRY- both sides not alike; not symmetrical

B

BILATERAL – relating to two sides
BRAIN MALFORMATIONS – failure of proper brain development

C

CAFE-AU-LAIT – pale brown areas on the skin
CARIOUS – tooth decay
CAVERNOUS – hollow
CHALONES – a substance that regulates cell division
CHOROID – dark brown vascular coat of the eye
CHOROIRETINITIS – inflammation of the choroid and retina
CHROMOSOME – contains DNA- a linear thread in the nucleus of a cell- usually normal in PROTEUS
CLINICAL – founded on actual observation or treatment
CLINODACTYLY – permanent deflection of one or more fingers
CONSANGUINITY – relationship by blood
CRANIAL HEMIHYPERTROPHY- increased muscular bulk on one side of the skull
CRANIOSYNOSTIS – premature closure of skull bones
CRANIUM – skull
CREATINE KINASE – enzyme present in skeletal and cardiac muscle and the brain
CUTANEOUS – skin

D

DANDY-WALKER CYST — congenital hydrocephalus caused by a blockage in the brain
DELINEATED — outlined
DENTITION — the type, number, and arrangement of teeth
DEPIGMENTATION — loss of pigment; partial or complete
DOLICHOCEPHALY — a long front to the back diameter of the skull
DYSMORPHIC — not in normal form
DYSPNEA — labored breathing
DYSTROPHIC — not in the right place

E

EPIBULBAR – located on the eyeball
EPIPHYSEOLYSIS – disease of the bone-making center of long bones or pineal gland
EPITHELIUM – skin (epidermis & mucous membranes)
ESOTROPIA – crossed eyes
EXOSTOSIS – a bony growth that grows on a bone

F

FEMUR – thigh bone
FLEXION CONTRACTURE – a bent joint that doesn’t extend

H

HALLUX – the great toe
HAMARTOMA – a benign tumor
HAMARTONEOPLASTIC – a building of benign tumors
HEMANGIOMA – a benign tumor of the large blood vessels
HEMIHYPERTROPHY – half of the body size increased
HEMIMEGALENCEPHALY – half of the brain is larger
HETEROCHROMIA IRIDES – different eye colors
HIRSUTISM – excessive growth of hair in unusual places
HYPERKERATOSIS – overgrowth of skin or tumors made of keratin (tough protein found in hair and nails)
HYPERKERATOTIC LESION – overgrowth of cornea
HYPEROSTOSIS – overgrowth of bone
HYPERPIGMENTED – extra color in the skin
HYPERTROPHY – increased size of an organ or the body

I

INFERIOR – below

K

KYPHOSIS – humpback
KYPHOSCOLIOSIS – curvature of the spine with humpback

L

LINEAR – a line
LIPOMA – a fatty tumor
LORDOSCOLIOSIS – forward curve of the spine with lateral curve
LUMBOSACRAL – lower back
LYPHANGIOMA – tumor consisting of lymphatic tissue

M

MACROCEPHALY – abnormally large head
MACRODACTYLY – abnormally large fingers and toes
MACRO-ORCHIDISM – abnormally large testicles
MACULE – flat discolored spot on the skin
MEGALOPODIA – abnormally large feet
MERRICK, JOSEPH – 1862-1890, "Elephant Man" probably had Proteus syndrome
METATARSALS – bones just behind the toes
MICROPHTHALMIA – abnormally small eyes
MONOMORPHIC ADENOMA – unchangable tumor
MORBIDITY – diseased

N

NEOPLASM – tumor or growth
NEOPLASTIC – the nature of abnormal tissue
NEVI – (plural of nevus) a mole or birthmark
NYSTAGMUS – constant, involuntary, cyclical movement of the eyeball

O

ORCHIDOPEXY – surgery to transfer undescended testicles to the scrotum
OSSIFICATION – process of making bone

P

PACHYDERMATOCELES – a hanging tumor
PALATE – roof of the mouth
PALLOR – lack of color
PAPILLOMA – benign tumor without blood vessels
PATELLAE – knee cap
PATOGENIC – productive of disease
PHALANGES – bones in fingers and toes
PLANTAR HYPERPLASIA – extra thick skin on the soles of feet
POLMORPHOUS – occurring in more than one form
PORT OF WINE STAIN – purple-red birthmark
POSTERIOR – toward the back
PROTEUS – a Greek god- a polymorphous who could change his shape at will to escape capture
PTOSIS – drooping of an organ

R

RADIOGRAPH – x-ray
RETINAL COLOBOMAS – a lesion on the retina
RETROPERITONEAL – where kidneys are located, outside the peritoneal cavity behind the peritoneum

S

SCOLIOSIS – curvature of the spine
SHAGREEN – leathery
STRABISMUS – straying eye
SULCIFORM – a groove, especially of the brain
SUPERIOR – higher or above
SYNDACTYLY – webbed fingers or toes

T

TALIPES – any deformity of the foot
TELANGIECTASIS – a vascular lesion of the blood vessels-looks like a birthmark
TIBIA – the large bone of the lower leg
TRAGUS – a projection made of cartilage in front of the ear canal
TRANSVERSE PROCESS – crossways bone or tissue

V

VALGUS – bowlegged-bent outward
VARICOSITIES – distended, swollen, knotted veins
VERRUCOUS EPIDERMAL – wart like skin
VISCERAL – internal organs, especially abdominal

W

WHORLED – a spiral arrangement

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The Proteus Syndrome Foundation, a 501c3 not-for-profit organization, is dedicated improving the lives of Proteus patients by funding AKT1 research. We focus on providing family support in the form of education and networking individuals living with Proteus syndrome with other families and medical professionals.

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Alex Hoag
In Loving Memory of
Alexander Hoag
7/5/90 - 9/20/99
"He did a lot in 9 short years."
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  • PSF Home
  • 2022 Conference Presentations
  • About Us
    • Who We Are
    • Board of Directors
    • Medical Advisory Board
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  • Published Papers
  • Patients & Families
    • About Proteus Syndrome
    • Clinical Trials
    • Genetic Testing
    • Resources
      • Videos
      • Documentary
      • Glossary
    • Covid 19 and Proteus Syndrome
  • Researchers & Physicians
    • Proteus 101
    • Clinical Trials & Research Pipeline
    • Genetic Testing
    • Resources
  • Ways to Help
    • Donate
    • Fundraise
    • Family Assistance Program
    • The Jackie Johnson Sparkle Grant
  • Contact Us
  • Subscribe