Dysmorpho
Congenital failure of closure of the skull and spinal column
Craniorachischisis
Distance between the inner canthi (inner corners) of the two eyes
Canthal distance, inner
Complete congenital adhesion of the eyelids; fused eyelid
Cryptophthalmos
Adhesion of the eyelids by synechiae or fibrous bands
Ankyloblepharon
Most lateral point of the corner of the mouth
Cheilion
Elevated vascular naevus or ‘strawberry mark’; usually a dense red colour
Cavernous haemangioma
Congenital enlargement of the eye, usually secondary to congenital glaucoma
Buphthalmos
Flattening of the back of the head
Brachycephaly
The flaring cartilaginous area forming the outer side of each nostril
Ala nasi
A condition in which a body part is absent or does not develop completely
Agenesis
Abnormal resting position of the foot. Most common types are talipes equinovarus and talipes calcaneovalgus
Club-foot
Distance between the outer canthi (outer corners) of the two eyes
Canthal distance, outer
Congenital absence of one or both eyes. Genetically, anophthalmia may represent an extreme form of microphthalmia and both forms may coexist in the same patient or in different family members
Anophthalmia
A congenital giant pigmented naevus over the area of the body covered by swimming trunks. The naevus can be hairy, deeply pigmented, and very large. It may undergo malignant transformation, so expert advice from a paediatric dermatologist is essential
Bathing trunk naevus
Absence of the ocular lens
Aphakia
Pattern of ridges and grooves over the fingertips, palms, and soles
Dermatoglyphics
Severe form of holoprosencephaly with ocular hypotelorism and a centrally placed nose with a single blind-ended nostril
Cebocephaly
Absence of teeth
Anodontia
Absence of skin in a specific area—commonly on the scalp
Cutis aplasia
Unequal pupil size
Anisocoria
Failure of the testis to descend into the scrotum
Cryptorchidism
With the arms hanging by the sides and palms facing forwards, the deviation of the forearm relative to the humerus
Carrying angle
Fleshy inferior border of the nasal septum, between the nostrils
Columella nasi
Literally ‘bent limb’, as seen in campomelic dysplasia or oto-palato-digital syndrome type II
Campomelia
Absence of nails
Anonychia
Downward slant of the palpebral fissure of the eye, with the outer canthus (outer corner) lying below the level of the inner canthus
Antimongoloid slant
Abnormal position of the penis caused by a band of tissue that holds the penis in a ventral or lateral curve
Chordee
An area of altered skin colour present from birth or arising in early infancy and caused by vascular or pigment distribution anomalies
Birthmark
Complete absence of one or more limbs from the shoulder or pelvic girdle
Amelia
Lateral or medial curve of one or more fingers or toes away from the third finger
Clinodactyly
Macular area of coffee-coloured pigmentation >0.5 cm in diameter
Café-au-lait spot
Short fingers
Brachydactyly
Upper, dome-like portion of the skull
Calvarium
Streak of abnormally pigmented skin following the line of a dermatome. Linear distribution along limbs; hemicircumferential on the trunk
Blaschko line
Absence, loss, or deficiency of hair; may be patchy or total
Alopecia
A short or tight lingual frenulum attaching the anterior half of the inferior aspect of the tongue to the floor of the mouth, just beneath or directly onto the posterior alveolar ridge, which restricts tongue movement
Ankyloglossia
BMI = weight (kg)/height^2 (m^2)
Body mass index (BMI)
Accumulation of lymphatic fluid found usually at the back of the neck
Cystic hygroma
Increased carrying angle at the elbow
Cubitus valgus
Pigmented skin surrounding the nipple
Areola
Literally ‘bent fingers’; usually involving contractures of the fingers
Camptodactyly
Area of absent or reduced pigment due to lack of functional melanocytes
Depigmentation
Absence of the iris
Aniridia
Additional nipple arising on the ‘milk line’ that runs caudally from the normally sited nipple and cranially towards the axilla
Accessory nipple
Distance from the top of the head to the bottom of the buttock
Crown–rump length (CRL)
A condition in which an opening or passage for the tracts of the body is absent or closed, e.g. anal atresia, duodenal atresia
Atresia
Congenital fissure of the eye, which may involve the iris and/or retina or eyelid
Coloboma
Long, slender hands, feet, fingers, and toes. Literally ‘spider digits’
Arachnodactyly
The upper edge of the upper lip; shaped like the double-curved bow carried by Cupid
Cupid’s bow
Decrease in the palpebral fissure aperture; the distance between the inner and outer canthi of each eye is reduced
Blepharophimosis
Radiological assessment of skeletal maturity based on ossification of the carpal and hand bone epiphyses
Bone age
Segmental area of skin supplied by nerves from a single spinal nerve root
Dermatome
Mottle, marbled, or speckled elevation of the iris due to increased density of the anterior border layer of the iris. Present in 85% of individuals with Down’s syndrome—similar appearances may also be seen in normal individuals
Brushfield spot
Congenital absence of the nose
Arrhinia
Inner layer of the skin; the outer layer is the epidermis
Dermis
Outward bowing of the knee; bow-leg
Genu valgum
Inversion of the eyelid
Entropion
Increased distance between paired structures (e.g. eyes)
Hypertelorism
Abnormal protrusion of the eyes (as seen in Crouzon or Apert syndromes)
Exophthalmos
Abnormal retraction of the eye into the orbit, producing deeply set eyes
Enophthalmos
Congenital fissure of the anterior abdominal wall
Gastroschisis
Most lateral point of the posteroinferior angle of the mandible
Gonion
Prominent midline point between the eyebrows
Glabella
Inward deviation of an eye; convergent strabismus (squint)
Esotropia
Absence of normal anal opening due to abnormal separation of cloaca
Imperforate anus
Downward displacement or retraction of the tongue
Glossoptosis
Small fold of mucous membrane between teeth or under the tongue
Frenulum
Displacement of the ocular lens, as seen in Marfan’s syndrome and homocystinuria
Ectopia lentis
Distance from top of head to sole of foot in standing position
Height
Unequal iris colour (e.g. Waardenburg syndrome)
Heterochromia iridis
Superficial keratinized layer of the skin
Epidermis
Failure of midline cleavage of the embryonic forebrain
Holoprosencephaly
Excessive body hair that is long and involves the face
Hypertrichosis
Outward deviation of an eye; divergent strabismus (squint)
Exotropia
Lowest median point on the inferior border of the mandible
Gnathion
Extreme kyphosis or hump of the spine
Gibbus
Congenital herniation of the brain through a bony deficiency of the skull
Encephalocele
Reduced number/size of teeth due to disturbance in development
Hypodontia
Eversion of the lips, as seen in congenital Harlequin ichthyosis
Eclabion
Excessive stretch of skin or joint range
Hyperextensibility
Eversion of the eyelid
Ectropion
Congenital fold of the skin medial to the eye, broader inferiorly than superiorly
Epicanthus inversus
Membrane-covered space in the incompletely ossified skull of a fetus or infant
Fontanelle
Abnormally sited
Ectopic
Decreased interpupillary distance
Hypotelorism
Lateral displacement of the inner canthi of the eye (e.g. Waardenburg type 1)
Dystopia canthorum
Congenital fold of the skin medial to the eye, sometimes covering the inner canthus
Epicanthic fold
Excessive body and facial hair
Hirsutism
Abnormal location of the urethral meatus on the dorsal surface of the penis
Epispadias
Prominence of the frontal bone of the skull
Frontal bossing
Crease in the skin on the ventral surface of a joint
Flexion crease
Small, dysplastic nails
Hyponychia
Flow of tears down the cheek due to blockage or stenosis of the nasolacrimal duct
Epiphora
Commonly used to describe a ‘split hand’ or ‘split foot’ where there is deficiency of the middle ray(s) of the hand/foot
Ectrodactyly
Abnormal increase in cerebrospinal fluid with dilation of ventricles
Hydrocephalus
Abnormal location of urethral meatus on ventral side of penis
Hypospadias
Inward deviation of the knee; knock-knee
Genu varum
Cranial portion of the sternum that articulates with the clavicles and the first two pairs of ribs
Manubrium
Distance from the top of the pubic bone to the sole of the foot
Lower segment
White spots or stripes on the nails; may involve the whole nail
Leukonychia