The visually evident signs in the following list are illustrated in a series of short clinical videos.
Abdomen, bulging – frog like – sign of hypotonia
Acrodysplasia – multiple signs of under-development of distal structures
Anti-helix
Anti-helix gap
Anti-helix, protruding or prominent
Anti-tragus
Asymmetry
Body proportions
Body proportions, juvenile
Body, asymmetry
Body, hemiatrophy
Body, hemihypertrophy
Body, small size, proportional, microsomia
Body, symmetry
Digits, tips, small – one sign of acrodysplasia
Ears, auricles, antihelix, gap
Ears, auricles, asymmetric
Ears, auricles, helix, dymorphic, hypoplastic
Ears, auricles, helix, folded
Ears, auricles, helix, folded, unilateral, right
Ears, auricles, helix, hypoplastic
Ears, auricles, helix, lobule, dimples, creases, pits
Ears, auricles, helix, pointed
Ears, auricles, helix, unfolded
Ears, auricles, large
Ears, auricles, low set
Ears, auricles, malrotated – longitudinal axis approaching the horizontal
Ears, auricles, protruding – may be called “bat” ears
Ears, auricles, symmetric
Ears, helix, asymmetry
Equilibrium, balance, unsteady
Eyebrows, confluent, synophris
Eyebrows, hair, sparse
Eyebrows, thick
Eyelashes, disorganized – irregular, mal-insertion, distichiasis
Eyelids, parpados, palpebral, palpebral fissures, upward slant
Eyelids, parpados, palpebral fissures, slant, downward – anti-mongoloid slant
Eyelids, parpados, palpebral opening, asymmetric
Eyelids, parpados, palpebral opening, narrow – measure
Eyes, ocular motion
Eyes, ocular, hypertelorism
Eyes, strabismus, intermittent – sign of visual loss?, myopia?
Face, facies, stigmatic
Feet, arch, abnormal
Feet, club, pes equinovarus
Feet, dorsum, edema, puffy
Feet, pes cavus – high arch
Fingers, 5th, clinodactyly – incurved
Fingers, 5th, curved, clinodactyly
Fingers, distal, hypoplasia – includes nails, one sign of acrodysplasia
Fingers, flexion creases, 5th, distal, virtual – implies underdeveloped
Fingers, phalanges, distal, small – one sign of acrodysplaia
Forehead, metopic suture, open – one sign of connective tissue – skeletal dysplasias
Forehead, metopic suture, synostosis – trigonocephaly
Forehead, prominent
Forehead, receding – may be associated with protruding ocular globes
Gynecomastia
Hair, hairline
Hair, hypotrichosis – sparse
Hair, scalp, sparse
Hair, scalp, sparse, standing up or on end
Hair, scalp, whorls, midline, clockwise
Hallux, duplication – toe, 1st, pre-axial polydactyly
Hallux, proximal insertion
Hands, thenar eminence, small or hypoplastic
Head, cranium, skull, small, microcephaly, microcrania – measure
Hyperactivity
Hypotonia – floppy, flabby
Incontinence – not toilet trained
Knees, genu, recurvatum or retroflexed
Limbs, upper, increased carrying angle – forearm pointing away from midline
Lip, bow, cupid
Lip, upper, thin, vermilion
Lips
Lips, upper, philtrum, flat or absent
Mandible, dysmorphic – disproportional jaw
Mandible, jaw, chin or gnathos, small or micrognathia
Mental, deficit – instead of mental retardation or learning disability
Mental, deficit, impulse control – related to mental retardation or learning disability
Motion
Motion, jitterness – lack of fine motor control
Mouth, oral, carp or fish like – lip outer corners lower than mid-point of lower lip
Mouth, oral, cavity, small
Nails, dysplasia, hypoplasia, small
Neck, short
Neck, short (not visualized)
Neck, skin, redundant – “buffalo” like
Nipples, hyperthelorism or wide set
Nose, bulbous
Nose, tip, small – one sign of acrodysplasia, “pug” nose
Nostrils, anti-verted – small nose tip
Palate, cleft
Palmar flexion transverse creases
Palmar flexion, transverse, creases, aberrant
Palms, flexion transverse creases, distal, normal – vs. Sydney type reaching the ulnar border
Palms, flexion transverse creases, excessively numerous – “white lines” if printed using ink
Palms, flexion transverse creases, single, Simian
Palms, flexion transverse creases, proximal, Sydney
Pectus excavatum
Penis, micropenis
Peri-ocular, epicanthic folds
Scapulas, mass
Sclera
Sclera, thin, blue
Scrotum, microscrotum
Size
Skin, acrocyanosis
Skin, mottled, cutis marmorata
Skin, scar, surgical
Skin, spot or area, pigmented, melanotic, irregular edges
Skin, spot, pigmented, melanotic, café au lait
Sole, crease, longitudinal, toe 1 – 2
Sole, creases, excessive – “white lines” if printed using ink
Symmetry
Syndactyly
Teeth, dental, median, tooth
Thenar, eminence, hypoplastic
Thumbs, proximal insertion
Toes, 2nd, mal-implanted, dorsal
Toes, 5th, duplication – toe, post-axial, polydactyly
Toes, clinodactyly, 2nd
Toes, dysmorphic
Toes, implantation, dysmorphic, 2 and 4th dorsally implanted
Toes, implantation, dysmorphic, upward 3rd
Toes, nails, hypoplastic
Toes, nails, small, acrodysplasia
Tongue, furrowed – “scrotal like”
Tongue, protruding, intermittent – glossa
Tongue, protrusion, active, intermittent
Tragus – antitragus
Umbilicus, shallow
Vermillion
Vermillion, thin
Acrodysplasia – multiple signs of under-development of distal structures
Anti-helix
Anti-helix gap
Anti-helix, protruding or prominent
Anti-tragus
Asymmetry
Body proportions
Body proportions, juvenile
Body, asymmetry
Body, hemiatrophy
Body, hemihypertrophy
Body, small size, proportional, microsomia
Body, symmetry
Digits, tips, small – one sign of acrodysplasia
Ears, auricles, antihelix, gap
Ears, auricles, asymmetric
Ears, auricles, helix, dymorphic, hypoplastic
Ears, auricles, helix, folded
Ears, auricles, helix, folded, unilateral, right
Ears, auricles, helix, hypoplastic
Ears, auricles, helix, lobule, dimples, creases, pits
Ears, auricles, helix, pointed
Ears, auricles, helix, unfolded
Ears, auricles, large
Ears, auricles, low set
Ears, auricles, malrotated – longitudinal axis approaching the horizontal
Ears, auricles, protruding – may be called “bat” ears
Ears, auricles, symmetric
Ears, helix, asymmetry
Equilibrium, balance, unsteady
Eyebrows, confluent, synophris
Eyebrows, hair, sparse
Eyebrows, thick
Eyelashes, disorganized – irregular, mal-insertion, distichiasis
Eyelids, parpados, palpebral, palpebral fissures, upward slant
Eyelids, parpados, palpebral fissures, slant, downward – anti-mongoloid slant
Eyelids, parpados, palpebral opening, asymmetric
Eyelids, parpados, palpebral opening, narrow – measure
Eyes, ocular motion
Eyes, ocular, hypertelorism
Eyes, strabismus, intermittent – sign of visual loss?, myopia?
Face, facies, stigmatic
Feet, arch, abnormal
Feet, club, pes equinovarus
Feet, dorsum, edema, puffy
Feet, pes cavus – high arch
Fingers, 5th, clinodactyly – incurved
Fingers, 5th, curved, clinodactyly
Fingers, distal, hypoplasia – includes nails, one sign of acrodysplasia
Fingers, flexion creases, 5th, distal, virtual – implies underdeveloped
Fingers, phalanges, distal, small – one sign of acrodysplaia
Forehead, metopic suture, open – one sign of connective tissue – skeletal dysplasias
Forehead, metopic suture, synostosis – trigonocephaly
Forehead, prominent
Forehead, receding – may be associated with protruding ocular globes
Gynecomastia
Hair, hairline
Hair, hypotrichosis – sparse
Hair, scalp, sparse
Hair, scalp, sparse, standing up or on end
Hair, scalp, whorls, midline, clockwise
Hallux, duplication – toe, 1st, pre-axial polydactyly
Hallux, proximal insertion
Hands, thenar eminence, small or hypoplastic
Head, cranium, skull, small, microcephaly, microcrania – measure
Hyperactivity
Hypotonia – floppy, flabby
Incontinence – not toilet trained
Knees, genu, recurvatum or retroflexed
Limbs, upper, increased carrying angle – forearm pointing away from midline
Lip, bow, cupid
Lip, upper, thin, vermilion
Lips
Lips, upper, philtrum, flat or absent
Mandible, dysmorphic – disproportional jaw
Mandible, jaw, chin or gnathos, small or micrognathia
Mental, deficit – instead of mental retardation or learning disability
Mental, deficit, impulse control – related to mental retardation or learning disability
Motion
Motion, jitterness – lack of fine motor control
Mouth, oral, carp or fish like – lip outer corners lower than mid-point of lower lip
Mouth, oral, cavity, small
Nails, dysplasia, hypoplasia, small
Neck, short
Neck, short (not visualized)
Neck, skin, redundant – “buffalo” like
Nipples, hyperthelorism or wide set
Nose, bulbous
Nose, tip, small – one sign of acrodysplasia, “pug” nose
Nostrils, anti-verted – small nose tip
Palate, cleft
Palmar flexion transverse creases
Palmar flexion, transverse, creases, aberrant
Palms, flexion transverse creases, distal, normal – vs. Sydney type reaching the ulnar border
Palms, flexion transverse creases, excessively numerous – “white lines” if printed using ink
Palms, flexion transverse creases, single, Simian
Palms, flexion transverse creases, proximal, Sydney
Pectus excavatum
Penis, micropenis
Peri-ocular, epicanthic folds
Scapulas, mass
Sclera
Sclera, thin, blue
Scrotum, microscrotum
Size
Skin, acrocyanosis
Skin, mottled, cutis marmorata
Skin, scar, surgical
Skin, spot or area, pigmented, melanotic, irregular edges
Skin, spot, pigmented, melanotic, café au lait
Sole, crease, longitudinal, toe 1 – 2
Sole, creases, excessive – “white lines” if printed using ink
Symmetry
Syndactyly
Teeth, dental, median, tooth
Thenar, eminence, hypoplastic
Thumbs, proximal insertion
Toes, 2nd, mal-implanted, dorsal
Toes, 5th, duplication – toe, post-axial, polydactyly
Toes, clinodactyly, 2nd
Toes, dysmorphic
Toes, implantation, dysmorphic, 2 and 4th dorsally implanted
Toes, implantation, dysmorphic, upward 3rd
Toes, nails, hypoplastic
Toes, nails, small, acrodysplasia
Tongue, furrowed – “scrotal like”
Tongue, protruding, intermittent – glossa
Tongue, protrusion, active, intermittent
Tragus – antitragus
Umbilicus, shallow
Vermillion
Vermillion, thin
