Dysmorphology

Anotia

Missing auricle (absent external ear)

Antihelix

Normal part of external ear; many possible anomalies of the antihelix exist (underdeveloped, absent, prominent, etc)

Cryptotia

Invagination of superior part of auricle under a fold of temporal skin

Normal position of ears

Imaginary line passing through inner canthi and extending back should also pass through upper third of earEars are low set if this line passes over the ears instead of through them

Cupped ear

Protruding and usually lacking antihelical folds

Ear pits

Look like ear piercings without earrings in them

Macrotia

Large ears; longitudinal length and width are over 2 SD above mean

Adactyly

Absence of all phalanges of all digits of a limb

Clinodactyly

Digit curves inward

Simian crease

aka Single transverse palmar crease

Brachydactyly

Short fingers

Brachycephaly

Broad, short skull

Macrocephaly

FOC greater than 97th percentile

Microcephaly

FOC less than 3rd percentile

Plagiocephaly

Asymmetric skull

Coarse facies

Absence of fine, sharp features of brows, nose, lips, mouth, chin; usually rounded and heavy features with thickened skin

Frontal bossing

Bilateral bulging of the lateral frontal bone prominen-ces with relative sparing of the midline

Micrognathia

Reduces length and width of the mandible (chin, jaw) when viewed from the front but not so much from the side

Prognathism

Protruding chin

Retrognathia

The lower jaw is set back from the plane of the face when viewed from the side but not the front

Bifid nose

Partial cleft or indentation in the nasal tip

Columella

Septum between nostrils

Nares

Nostrils

Nasal bridge

Area of upper nose between the eyes

Nasal ridge

Main, middle part of nose (not the bridge and not the tip)

Palpebral fissue

Outline formed from the outer canthus to the inner canthus

Ablepharon

Absent eyelids

Ankyloblepharon

Partial fusion of the upper and lower eyelids

Cryptophthalmos

Absense of palpebral fissues with continuous skin from forehead/eyebrows to cheeksNo eyes

Proptosis

Bulging eyes

Ptosis

Heavy eyelids; upper eyelids is posistioned 3mm or more lower than normal and covers superior portion of iris

Epicanthal folds

A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthusaka epicanthus

Cryptorchidism

Testes in inguinal canal, aka undescended testes

Hypospadius

ventral placement of urethral opening (more common than epispadius)

Epispadius

Dorsal placement of urethral opening

Epistaxis

nose bleeds

Anosmia

Loss of the sense of smell

Hematuria

presence of blood in the urine

Polydipsia

Abnormally great thirst

Polyphagia

Excess hunger or abnormally large intake of solids by mouth

Hirsutism

Male pattern of hair growth on female's face, chest, or back

Keloid

raised, bumpy scar after a wound has healed

Tubular nose

Wide nose, same width all the way down

Preaxial polydactyly

extra digit on thumb side (way less common than postaxial)

Postaxial polydactyly

extra digit on pinky finger side