Expressivity

Eye brows

noticeably broad/narrow/diffuse, strongly bowed /horizontal, tilted upwards/downwards towards the outside strongly/weakly accentuated supraorbital arches, synophris

Eye bulb

microphthalmos, en-/exophthalmos, Brushfield's spots, heterochromia iridis, coloboma, retinal dysplasia, strabism, nystagmus

Eye lids

microphthalmos, en-/exophthalmos, Brushfield's spots, heterochromia iridis, coloboma, retinal dysplasia, strabism, nystagmus

Thumbs/large toe

aplasia, noticeably distal/proximal imbedded

Fingers/toes

noticeably short /broad/long, clinodactyly, flexion posture, superimposing, polydactyly, syndactyly, zygodactyly, hypoplasia of the phalanges, hypoplasia of the nails

Feet

malposition, prominent heels, sandal holes, lymphatic edema

Palate

noticeably high (gothic)/flat/short, cleft formation

Joints

hip joint dysplasia, restricted mobility/superflexibility, scoliosis

Genitalia

intersexual, hypoplastic/ hypertrophic, cryptorchism, hypospadia, urogenital sinus

Face

flat, noticeably small /enlarged eye-nose-mouth region

Hair

hypertrichosis/alopecia, abnormally fine/coarse, premature gray, lower/higher nape/forehead hairline

Neck

pterygium, wide skin folds, short neck/noticeably longer neck

Hands

noticeably broad, plump, lymphatic edema, simian creases, finger pad pillows

Skin

haemangioma/naevi, defective scalp, cutaneous dimples

Jaw

micrognathia, retrognathia/prognathia

Lid axis

mongoloid: (lateral deviation upwards); antimongoloid: (lateral deviation downwards)

Mamillae

accessory/inverted/hypoplastic, wide spacing

Mouth/lips

noticeably broad/narrow, down turned labial angle, inverted/everted red border, cleft formation

Nasal dorsum

noticeably broad/narrow, short/long, bowed

Nasal tip/
nasal wing

noticeably broad/narrow, bulbous, inverted/everted nasal openings, median nasal indentation

Nasal root

noticeably broad/narrow, prominent/sunken, prominent glabella

Ears

noticeably large/small, protruding, low, tilted ear axes, dysplastic auricle (noticeably weak/strongly folded helix, prominent anthelix, prominent lobes, lobe notches, bones noticeably wide/narrow), hanging ear formation

Philtrum

noticeably long/short, low/flat spread out

Skull

asymmetric, microcephaly, premature/delayed fontanella closure

Trunk

thorax broad/narrow/barrel-shaped, broad mamillae spacing, low placement /supernumerary mamillae, funnel chest/carinate breast, hernias

Forehead

prominent/ receding, noticeably narrow/broad

Teeth

tooth, form, placement anomalies

Tongue

strongly folded, macroglossia