Head

Macrocephaly FOC >95%Microcephaly FOC <3%Brachycephaly Short AP (front to back of head) length of skullDoliocephaly Long AP (front to back of head) length of skull

Trigonocephaly Triangular shaped skullTurricephaly Tall head relative to length and width

Face Shape Round, Square, Triangular, Narrow

ForeheadBitemporal Narrowing

width of the forehead or distance between the frontotemporales is more than two SD below the mean (sunken in shape)

Frontal Bossing bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline (out pouching in lateral way- side to side)

Sloping Forehead excessive posterior sloping of the forehead in a lateral view (microcephaly)

EyesPalpebral Fissures (draw a line from the two inner corners of the eye)

Up-slanting When the outside of the eye is above the line

Down-slanting When the outside of the eye is below the line

Colomba a hole in one of the structures of the eye, such as the iris, retina, choroid fissure, which is present during early stages of prenatal development, fails to close up completely before a child is born

Ear (Draw an imaginary line between the medial canthi and extend across to the ears)

Normal Ear Positioning

if the superior attachment of the ear to the head crosses this line, then the ears are normally set

Low Set if the superior attachment of the ear to is below this line, the ear is low set

Posteriorly Rotated Ears

have an angle of more than 20 degrees from vertical position

pre-auricular ear tag:

small non-cartilaginous protrusion anterior to the insertion of the ear

Auricular ear tag: small non-cartilaginous protrusion on the ear

Post- auricular tag small non-cartilaginous protrusion behind the earPost-auricular ear pit

small indentation anterior to the insertion of the ear

Auricular pit Small indentation on the earPost-auricular pit Small indentation posterior to the ear

Nose(Lowest point of where the nose is indented, is usually right at the pupils)

Low-set nasal bride Lowest point is below the pupuls

FaceMildface Hypoplasia The upper jaw, cheekbones, and eye sockets have not

grown as much as the rest of the face. (Inverted c-shape to the face; eye sockets not as deep; bones are too small)

Mouth (should line up with outside of pupils)

Downturned mouth Low muscle tone, mouth hangs

Clefts

Bifid Uvula Submucous cleft palate ( the mucousa is closed, but the muscles above the mucousa didn’t close properly).Have nasal regurgitation (spit up comes out of nose, muscles aren’t there to keep it closed). Seen in Loeys–Dietz syndrome

ChinMicrognathia Small in left to right direction.

Apparently reduced length and width of the mandible when viewed from the front but not from the side.

Retrognathia Small from front to back.Posteriorly positioned lower jaw, which is set back from the plane of the face when viewed from the side but not from the front.

Prognathia large from front to back; broad chin, protruding chin.Anterior protrusion of the mandibular alveolar ridge beyond the vertical plane of the maxillary alveolar ridge

Coarse Facial Features Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues

Neck Webbed Neck A fold of skin on the posterolateral aspect of the neck, usually extending from the mastoid region of the skull to the acromion and best appreciated in frontal and posterior view

Redundant Nuchal Skin

Some point in development had extra fluid on the neck the fluid resolved and now you have bunchy extra skin (down syndrome)

Chest Pectus Excavatum Abnormal formation of the rib cage that gives the chest a caved in or sunken appearance

Pectus Carnatum Sturnam is abnormally prominentPalms Single transverse

palmar creaseLook at palm and you only see one long fissure.The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.

Fingers Adactyly Missing all of the fingersOligodactyly Missing fingersPolydactyly Extra digits

Pre-axial- added on thumb sidePost-axial- added on pinky side

Camptodactyly Unable to completely extend digit to 180 degreesClinodactyly Curved fingerSyndactyly Webbed fingers (often between 2 and 3)

Mittensyndactyly- all fingers combined ectrodactyly Lobster claw deformity (autosomal dominant)

Feet Rocker Bottom Feet Convex curvature to the sole with a prominent heelClub Foot Foot is not able to be placed flat on the floor