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
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