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
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
For a copy of this booklet, please contact: Beachler Family, 5208 W.
900 S., Wabash, IN 46992, (219) 569-9009
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University of Kansas Medical Center © 1995-2012
Debra Collins, M.S. CGC, Genetic Counselor, dcollins@kumc.edu
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