Pediatric Medical Genetics - S.I. Smiian 2003

Glossary of Terms

Acrocephaly (oxycephaly) — a high, tower-like Skull.

Alopecia — permanent or temporary, complete or partial Hair loss.

Aniridia — absence of the iris.

Ankyloblepharon — adhesion of the eyelid margins by mucosal-covered bands.

Anophthalmia — absence of one or both eyeballs.

Antimongoloid slant — downward-slanting outer corners of the palpebral fissures.

Anencephaly — complete or near-complete absence of the Brain.

Aplasia (agenesis) — complete Congenital absence of an organ or its part.

Arachnodactyly — unusually long and slender fingers.

Acheiria (apodia) — underdevelopment or absence of the hand (FOOT).

Blepharophimosis — horizontal shortening of the eyelids, resulting in narrow palpebral fissures.

Blepharochalasis — Atrophy of the Skin of the upper eyelids.

Brachydactyly — shortening of the fingers.

Brachycamptodactyly — shortening of the metacarpal (metatarsal) bones and middle Phalanges combined with camptodactyly.

Brachycephaly — shortening of the transverse HEAD diameter with a relative decrease in the longitudinal diameter.

Vitiligo — focal depigmentation of the skin.

Heterochromia iridis — uneven coloration of different areas of the iris.

Hyperkeratosis — excessive thickening of the stratum corneum of the epidermis.

Hypertelorism — increased distance between the inner margins of the eye sockets.

Hypertrichosis — excessive hair growth.

Congenital hypoplasia — underdevelopment of an organ, manifested by a deficiency in its relative mass or size.

Hypospadias — lower cleft of the Urethra with displacement of its external opening.

Hypotelorism — decreased distance between the inner margins of the eye sockets.

Hirsutism — male-pattern hair growth in females.

Holoprosencephaly — undivided Forebrain represented by a single hemisphere with a single ventricular cavity that communicates freely with the subarachnoid space.

Distichiasis — a double row of eyelashes.

Dolichocephaly — predominance of the longitudinal dimensions of the head over the transverse ones.

Campomelia — curvature of the limbs.

Camptodactyly — flexion contracture of the proximal interphalangeal JOINTS OF THE fingers.

Keratoconus — conical protrusion of the cornea.

Clinodactyly — lateral or medial deviation of a finger.

Craniosynostosis — premature fusion of the cranial sutures, which limits head growth and leads to deformity.

Cryptophthalmos — underdevelopment or absence of the Eyeball, eyelids, and palpebral fissure.

Lissencephaly (agyria) — absence of sulci and gyri in the cerebral hemispheres.

Macroglossia — pathological enlargement of the Tongue.

Macrosomia (gigantism) — extremely enlarged body parts or abnormally tall stature.

Macrostomia — abnormally wide oral fissure.

Macrotia — enlarged auricles.

Macrocephaly — abnormally large head.

Megalocornea — increased corneal diameter.

Microgenia — small size of the Mandible.

Micrognathia — small size of the Maxilla.

Microcornea — decreased corneal diameter.

Microstomia — abnormally narrow oral fissure.

Microtia — abnormally small auricles.

Microphakia — abnormally small lens.

Microcephaly — small size of the brain and the neurocranium.

Microphthalmia — abnormally small eyeball.

Mongoloid slant — downward-slanting inner corners of the palpebral fissures.

«Widow's peak» — V-shaped hairline on the forehead.

Omphalocele is a hernia of the umbilical cord.

Tachyonychia is the thickening of the Nails.

Theromelia refers to abnormally short limbs with a normal-sized trunk.

Pilonidal pit (sacral sinus, pilonidal sinus tract) is a canal lined with stratified squamous epithelium that opens in the intergluteal cleft near the coccyx.

Polydactyly is an increased number of fingers and/or toes.

Preauricular skin tags are remnants of the External ear located anterior to the auricle.

Preauricular sinuses (preauricular pits) are blind tracts with the external opening located near the Base of the ascending crus of the helix of the auricle.

Progenia is the excessive Development of the mandible resulting in a massive chin.

Progeria is premature Aging of the body.

Prognathism is the anterior protrusion of the maxilla relative to the mandible due to its excessive development.

Prosencephaly is the incomplete division of the forebrain vesicle into cerebral hemispheres.

Pterygium refers to webbed skin folds.

Symphalangism (orthodactyly) is the fusion of the phalanges of a finger.

Syndactyly is the complete or partial fusion of adjacent fingers or toes.

Synechiae are fibrous bands connecting the surfaces of adjacent Organs.

Synophrys is the fusion of the eyebrows.

Scaphocephaly is an elongated skull with a prominent ridge at the site of prematurely fused sagittal suture.

Rocker-bottom foot is a foot with a prominent calcaneus and a convex, sagging sole.

Strabismus is squint or cross-eyedness.

Spherophakia is a spherical shape of the lens.

Telangiectasia is the local excessive dilation of capillaries and small vessels.

Telecanthus is the lateral Displacement of the inner canthi with normally positioned palpebral fissures.

Trigonocephaly is the expansion of the skull in the occipital region and narrowing in the frontal region.

"Cloverleaf" skull is an abnormal head shape characterized by a high prominent forehead, flattened occiput, and bulging temporal bones, with deep depressions visible at their junctions with the parietal bones.

Philtrum is the distance from the subnasal point to the vermilion border of the upper lip.

Phocomelia is the absence or severe underdevelopment of the proximal segments of the limbs, As a result of which normally positioned feet and/or hands appear to be attached directly to the trunk.

Exophthalmos is the anterior displacement of the eyeball, accompanied by widening of the palpebral fissure.

Ectopia lentis (subluxation, dislocation of the lens) is the displacement of the lens from the hyaloid fossa.

Ectropion of the eyelid is the eversion of the eyelid margin.

Epibulbar dermoid refers to lipodermoid growths On the surface of the eyeball, most commonly located at the limbus between the cornea and the sclera.

Epicanthus is a vertical fold of skin covering the inner canthus of the eye.