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Head Anomalies

macrocephaly

microcephaly

plagiocephaly

turri/oxy/acrocephaly

dolicho/scaphocephaly

trigonocephaly

prominent occiput

brachycephaly/plat occiput

large fontanelle

poorly ossified skull

dense/thickened skull

sutural synostosis, single

sutural synostosis, multiple

prominent metopic suture

scalp defect

cloverleaf skull

frontal bossing

high forehead

sloping forehead

broad forehead

narrow forehead

low hair line-front

basilary impressions

 

Face Anomalies

round face

narrow face

large face

flat face

triangular face

facial structural asymmetry

facial palsy

coarse face

fine/elfin face

prematurely aged face

expressionless face

broad cheeks

long face

sharp features to face

small face

orbital region anomalies

hypertelorism

hypotelorism

upslanted fissures

downslanted fissures

prominent supraorbital ridges

flat supraorbital ridges

proptosis/exophthalmos

deepset eyes/enophthalmos

midface anomalies

short midface

long midface

prominent premaxillary region

depressed premaxillary region

high cheek bones

flat cheekbones

pits on cheeks

tags on cheeks

lower jaw anomalies

prognathism

micrognatia/retrognatia

grooved/dimple chin

mandible partial absence

pointed chin

enlargement of jaw

limited opening of the mouth

malocclusion

 

Eye Anomalies

anophthalmos

microphthalmos

glaucoma/buphthalmos

cyclopia

pupillary anomalies

aniridia

coloboma of iris

heterochromia/mixed coloring of iris

brushfield spots

iris albinism

iris melanosis

corneal clouding/opacity

microcornea

megalocornea

keratoconus

blue sclerae

epibulbar dermoid

conjunctival telangiectasia

abnormal corneal structure

cataract

dislocated lens

microphakia/aphakia/lenticone

retinoschisis/retine coloboma

retinal detachment

retinal vascular changes

retinoblastoma

retinal albinism

oedema-papilloedema

optic disc anomaly/atrophy

retinal pigmentary changes peripheral

macular pigmentary abnormality

vision anomalies

visual loss-severe

visual loss-mild/suspected

night blindness/hemeralopia

achromatopsia/dyscchromatopsia

hypermetropia

myopia

astigmatism

photophobia

abnormal e.r.g.

abnormal v.e.r.

abnormal eye movements

squint/paresis of ocular muscles

nystagmus

ophtalmoplegia

Eyebrow Anomalies

eyebrows anomalies

absent/decreased eyebrows

thick/bushy eyebrows

synophris

high arched eyebrows

flared eyebrows

lateral thinning of eyebrows

darker than expected eyebrows

Lid & Lash Anomalies

lid adhesions/ankyloblepharon

ptosis

blepharophimosis/short palp.

fissures epicanthic folds

telecanthus

coloboma of the eyelid

puffy eyelids

ectropion

long/thick lashes

dystichiasis

absent/decreased lashes

defect of lacrymal system

wide palpebral fissures

Nose Anomalies

nose anomalies

long/large/bulbous nose

broad nose

narrow nasal bridge

short/small nose

flattened nose

bifid tip/cleft nose

single nare/abouphalia

beaked nose

absent nasal cartilage

high nasal bridge

depressed nasal bridge

broad nasal root

narrow nasal root

anteverted nares

thin ala nasi

flared nostrils

small nostrils

short columella/depressed nasal tip

thick columella

choanal atresia

anosmia/cacosmia

cleft face/lip/palate

central bony facial cleft

lateral bony facial cleft

cleft lip midline

cleft lip lateral

gingival cleft

cleft nare

unilateral cleft lip

bilateral cleft lip

cleft palate

cleft hard palate

cleft soft palate/bifid uvula

other facial clefts

Mouth, Lip & Philtrum Anomalies

macrostoma

microstoma

thick lips

thin lips

protruding lips

everted lower lip

tented upper lip

downturned mouth

mouth held open

exagerated cupid bows

philtrum flat/featureless

lip pits

lip hyperpigmentation

long philtrum

short philtrum

philtrum deeply grooved

tongue/gingiva/mucosa anomalies

macroglossia

microglossia/aglossia

glossoptosis

protruding tongue/hypertrophy

cleft/notched tongue

fissured tongue

hamartoma/tumours of the mouth

oral synechiae / abnormal frenulae

thickened gingivae

pigmented gums/mucous membranes

anomaly of salivary glands

Palate Anomalies

high vaulted/narrow palate

short palate

exostoses in palate

immobile soft palate

hypoplastic uvula

broad alveolar ridge

Teeth Anomalies

tooth shape anomaly

taurodontia

microdontia

macrodontia

supernumerary teeth

anodontia/oligodontia

abnormal dental position

enamel anomaly

dentine anomaly

dental staining anomaly

multiple caries

premature eruption of teeth

late eruption of teeth

dental cysts/tumours

Ear Anomalies

(position/orientation)

low set ears

posterior angulation of ears

prominent / bat ears

retroverted ears

(shape/structure)

anotia/microtia

polyotia

synotia

long/large ear

ear cartilage deficiency

calcified/rigid ear cartilage

folded helix

helix absent/abnormal

pointed helix

round ear

helix thickened/wide

crux cymbae

prominent antihelix

hypoplastic/abnormal antihelix

antihelix crus abnormal

tragus abnormal

antitragus abnormal

small/hypoplastic ear lobe

bifid ear lobe

thick ear lobe

linear indentation of ear lobe

telangiectasis of lobe

external auditory meatus

atretic/absent

posterior auricular pit

abnormal middle ear

abnormal inner ear

preauricular tags

preauricular pits

telangiectasia of ear

Hearing Loss

deafness(sensori-neural)

deafness(conductive)

auditory processing defect

Neck, Chest Wall Anomalies

short neck

webbed neck

excess nuchal skin

cystic hygroma

branchial cysts

torticolli

narrow/sloping shoulders

wide rib cage/shield chest

narrow rib cage

short rib cage

long rib cage

asymmetric rib cage

pectus carinatum

pectus excavatum

flared chest

abnormal rib

abnormal rib number

abnormal rib structure

Spine, Vertabrae & Pelvis Anomalies

straight spine

kiphosis

lordosis

scoliosis

vertebral segmentation anomaly

spina bifida

occulta

abnormal vertebral size/shape

punctated vertebrae

lack/delayed ossification of spine

epiphyseal vertebral anomaly

intervertebral disk anomaly

pelvis anomaly

narrow iliac wings

broad iliac wings

pubis abnormal

sacro-coccyx anomaly

sacrococcygeal teratoma

sacral sinus/dimple

sacrococcyx agenesis

Abdominal / Chest Wall Anomalies

abnormally placed nipples

supernumerary nipples

lack of breast tissue

gynecomastia/breast enlargement

hypoplastic/absent nipples

absent pectoral muscles

celosomia

omphalocele/exomphalos

gastroschisis

absent/diminished abdominal musculature

ectopia vescicae

hernia

inguinal hernia

umbilical hernia

Limb Anomalies

short limbs/micromelia

rhizomelic micromelia

mesomelic micromelia

long limbs

hyperextensible joints

restricted joint mobility

joint dislocation

elbow dislocation

shoulder dislocation

patella dislocation

webbing of joints

popliteal web

limb constriction ring

other joint anomaly

arthrosis

arthritis/limb pain

metaphyseal anomaly

epiphyseal anomaly

cone epiphyses

punctate epiphysis

diaphyseal anomaly

bowed diaphysis

narrow diaphysis

enlarged diaphysis

cortical anomaly

Upper Limb Anomalies

upper limb asymmetry

scapula anomaly

scapula abnormal structure

scapula abnormal position

clavicle absent/abnormal

humerus absent/abnormal

radius absent/abnormal

ulnar absent/abnormal

elbow anomalies(excluding luxation)

radio-ulnar synostosis

humeroradial fusion

humero-ulnar articulation abnormal

increased carrying angle of the elbows

wrist anomalies

carpal bones fusion

madelung deformity

upper limb deficiency-ray

ulnar ray abnormal

median ray abnormal/cleft hand

radial ray abnormal

hypoplastic thumb

radial club hand

upper limb-transverse elements missing

no hand

hand anomalies

brachydactyly

large hand

small hand

arachnodactyly

broad/trident hand

macrodactyly

irregularities:length/shape of fingers

metacarpal anomalies

short fourth metacarpal

syndactyly of fingers

symphalangy

upper limb polydactyly

preaxial polydactyly

postaxial polydactyly

oligodactyly/missing fingers

camptodactyly

claw hand/camptodactyly of all fingers

camptodactyly of some fingers

clinodactyly of fifth finger

clinodactyly of fingers 1,2,3,4

overlapping fingers

ulna deviation of fingers

terminal hypoplasia fingers

terminal broadening fingers

spindle shaped fingers

tapered fingers

simian crease

abn. dermatoglyphics excl.

simian crease

flat palm

absence of palmar creases

deep creases in palms

thumb anomalies (other than hypoplasia)

broad/bifid thumb

fingerlike/triphalangeal thumb

proximally set thumb

clasp thumb

Lower Limb Anomalies

sirenomelia

femur absent/abnormal

tibia absent/abnormal

fibula absent/abnormal

patella absent/abnormal

tarsal fusion

lower limb asymmetry/hemihypertrophy

hip anomalies

coxa valga

coxa vara

dislocated hip

knee anomalies

genu valgum

genu varum

genu recurvatum

wind-swept deformity of knees

ankle anomalies

talipes-varus/valgus

foot anomalies

long foot/arachnodactyly of toes

short foot/brachydactyly of toes

broad foot

pes talus

pes cavus

flat foot

small foot

abnormal sole/deep creases

polydactyly of toes

preaxial polydactyly of toes

postaxial polydactyly of toes

lower limb deficiency/ray

tibial ray abnormal

median ray abnormal

fibular ray abnormal

lower limb/transverse elements missing

absent foot

flexion deformity of toes

syndactyly of toes

overlapping toes

irregular length or shape of toes

macrodactyly of toes

terminal broadening/clubbing of toes

terminal hypoplasia of toes

clinodactyly of toes

abnormal great toe

long/prehensile great toe

short great toe

broad/bifid great toe

metatarsus

adductus

dorsiflexed great toe

hallux valgus

wide space between 1st-2nd toes

Skeletal Anomalies

osteoporosis

osteosclerosis/osteopetrosis

dysostosis multiplex

multiple fractures

multiple exostoses

multiple enchondroses

delayed bone age

advanced bone age

ossification abnormal

osteolysis

rough trabeculation

fibromatosis

bone cyst

Abnormal Skin

increased body hair

decreased body hair

increased sweating

decreased sweating

unusual body odor

eczema

skin hypoplasia/atrophy

striae

hyperkeratosis

palmoplantar hyperkeratosis

macules/papules

vesicles abnormal

scarring

hairy patch

shagreen patch

sinus/dimple/pit(other than sacral)

dry skin

ichthyosis

chronic skin infection

cutis marmorata/marbled skin

photosensitivity

urticaria

thin skin

thick skin

acne

lipoatrophy

lymphoedema/oedema

tight skin/lack of elasticity

hyperelastic skin

loose skin

abnormal pigmentary skin changes

vitiligo

decreased skin pigmentation diffuse

decreased skin pigmentation irregular

decreased skin pigmentation patchy

increased skin pigmentation diffuse

increased skin pigmentation irregular

increased skin pigmentation patchy

pigmented naevi

cafe-au-lait spot

excessive freckling

lentigines

abnormal vascular skin changes

purpura/petichiae

telangiectasia-skin (excludes ears)

telangiectasia-mucous membranes

haemangioma-capillary

haemangioma-cavernous

skin tumours/lumps

warts

xanthomas/lipomas

neurofibromas

adenoma sebaceum

cutaneous nodules

subcutaneous nodules

pedunculated skin lesions

Hair Anomalies

albinism (hair)

premature graying of hair

decreased hair pigmentation

white forelock

abnormal hair texture

fine hair

coarse/thick hair

woolly/frizzy hair

brittle hair

pili torti

dense scalp hair

sparse/absent scalp hair(generalized)

sparse/absent scalp hair (localized)

low hair line (back)

low hair line (front)

Nail Anomalies

abnormal fingernails

absent/small fingernails

thin/hypoplastic/hyperconvex fingernails

dysplastic/thick/grooved fingernails

ungual fibromas (fingernails)

abnormal toenails

absent/small toenails

hin/hypoplastic toenails

dysplastic/thick/grooved toenails

ungual fibromas (toenails)

Abnormal Alimentary Tract

pharyngeal abnormality

tracheo-oesophageal fistula

megaoesophagus

gastric ulcer

pyloric stenosis

duodenum atresia/sten./annular pancreas

common mesentere situs inversus

abnormal gastrointestinal tract

intestinal atresia (excludes duodenum)

malrotation/duplication of the gut

short bowel

polyposis of the bowel

hirschsprung's disease/megacolon

malabsorption/chronic diarrhoea

constipation

anus anomalies

imperforate anus/anal stenosis

malplaced anus

ascitis

Abnormal Respiratory System

chronic inflammatory lung disease

respiratory distress

emphysema/lung cyst

abnormal cry/voice

laryngeal abnormality

tracheal abnormality

hypoplastic lungs

absent lobe/lung/segmentation defect

lung fibrosis

diaphragmatic hernia/defect

hiatal hernia

abnormal pleura/hydrothorax

Abnormal Urinary Tract / Renal Function

agenesis/hypoplasia of kidneys

ectopic/horseshoe/fused kidneys

dysplastic kidneys

polycystic kidneys

renal cyst (single)

renal disease

renal glomerular defect

renal tubular defect

renal failure

kidney stones

nephrotic syndrome

proteinuria

hematuria

polyuria

bladder anomalies

ureteric anomalies(reflux/duplex system)

megauretere/hydronephrosis

urethral anomalies

nephroblastoma

kidney cancer

Abnormal Genitalia

ambiguous genitalia

true hermaphrodism

male pseudohermaphrodism

female pseudohermaphrodism

gonadal dysgenesis

urogenital sinus

testicular feminisation/xy female

xx male

late puberty/hypogonadism

sec. amenorrhea/precocious menopause

precocious puberty

sterility/hypofertility

impotence external female genitalia anomalies

uterine/vaginal abnormality

abnormal ovaries

micropenis/small penis

macropenis/large penis

hypospadias/epispadias

scrotal abnormalities

hypoplastic scrotum

horizontal folds on scrotum

shawl scrotum

bifid scrotum

vaginal hydrocele

undescended/ectopic testes

small/atrophic testes

macroorchidism/macrotestes

male internal genitalia anomalies

Cardiac Anomalies

congenital cardiac anomaly

cyanotic/complex heart disease

anomalous pulmonary venous return

hypoplastic cleft heart

hypoplastic aorta

dextroposition of aorta

transposition of great vessels

tetralogy of fallot

aortic root dilatation

coarctation of the aorta

mitral valve prolapse/incompetence

tricuspid valve prolapse/incompetence

pulmonary valve/artery stenosis

cardiac septal defect

auricular septal defect

ventricular septal defect

patent ductus arteriosus

cardiomyopathy

cardiac conduction defects

long qt/preexcitation/abnormal ecg

cardiac tumours

dextrocardia

peuricardium anomalies

endocardium anomalies/fibroelastosis

Vascular Anomalies

vascular hypertension

atheromas

aneurisms (excludes aorta)

arterioveinous fistula

visceral angiomatosis

bruisability

varicose veins

acrocyanosis

single umbilical artery

aortic arches anomalies

hemangioblastoma

Liver / Biliary Tract Anomalies

obstructive liver disease (intrahepatic)

obstructive liver disease (extrahepatic)

hepatic fibrosis

hepatocellular liver disease

cysts of the liver

storage liver disease

liver enlargement (excl. storage dis.)

biliary stones

gall bladder anomalies

icterus

Spleen / Pancreas Anomalies

pancreas anomalies

spleen anomalies

asplenia polysplenia

splenomegaly

Immune System Anomalies

immunoglobulin dysfunction/reduction

recurrent infections

humoral immune deficit

cellular immune deficit

hyperimmunity

anomalies of complement

autoimmunity

severe allergic reactions

lymphadenopathy

thymic aplasia/hypoplasia

Hematological System

red cell disorders

anaemia

polyglobulia

red cell abn. structure/shape

hemoglobinosis

platelet disorders

thrombocytopenia

platelets function abnormal

platelets shape abnormal

clotting disorders

white cell disorders

neutropenia/leucocytes anomalies

eosinophiles anomalies

basophiles anomalies

polynuclear cells anomalies

lymphocyte dysfunction/lymphopenia

monocytes/macrophages anomalies

Endocrine Glands Anomalies

hypothalamic-hypophysis axis anomalies

hypothal.-hypoph. axis abn.

morphol. hypothal.hypoph. axis abn. function

thyroid anomalies

ectopic/agenesis/hypoplastic thyroid

hypothyroidy

hyperthyroidy

parathyroids anomalies

hyperparathyroidy

hypoparathyroidy

adrenal glands anomalies

cortico-adrenal hypoplasia

cortico-adrenal hyerplasia

pancreatic hormones abnormal

insulino dependent diabetes

hyperinsulinism apudome

Metabolism Anomalies

phosph./calcium metabolism abn.

hypercalcemia

hypocalcemia

hyperammonaemia

organic acids disorders

hypoglycemia

hyperglycemia/diabetes mellitus

mucopolysacchariduria

oligosacchariduria

hyperlipidaemia/hypercholesterolemia

lipidosis/sulfatidosis

hyperuricemia

metabolism of aminoacids abnormal

porphyria metabolism abnormal

oligoelements metabolism abnormal

Neurological Structural Anomalies

neural tube defect

anencephaly

encephalocele/exencephaly

meningocele

spina bifida

myelomeningocele

diastematomyelia

holoprosencephaly/arhinencephaly

hydranencephaly

dilated cerebral ventricles

cerebral cortex atrophy

hydrocephaly

communicating hydrocephaly

stenosis of aqueduc of sylvius

dandy-walker anomaly

arnold-chiari anomaly

cerebral gyral defect/lissencephaly

corpus callosum/pellucidum agenesis

thalamic/hypothalamic defect

midbrain /pons/medulla anomalies

porencephaly/schizencephaly

cerebellum agenesis/hypoplasia

septo-optic dysplasia

syringomelia

cranial nerve anomalies

cerebral vascular anomalies

benign tumors of the brain

intracranial calcifications

Neurological Functional Anomalies

mental retardation(degree not assessed)

mental retardation(mild)

mental retardation (moderate/severe)

neurological regression/dementia

behaviour disorder/autism

abnormal gait

seizures( any type)

speech defect

ataxia/incoordination

movement disorder

hypotonia

hypertonia/spasticity/rigidity

areflexia/hyporeflexia

hypereflexia

hemiparesis/hemiplegia

paraparesis/quadraparesis

insensitivity to pain

e.e.g.abnormality

nerve conduction abnormality

Muscle Anomalies

myopathy

myotonia

amyotrophy/muscle agenesis

e.m.g.abnormality

muscle biopsy abnormal

neoplasia/cancer

carcinoma

adenoma

gonadal malignancy

sarcoma

germ cell malignancy

vascular malignancy

bone malignancy

odontogenic malignancy

neurological tumours

lymphoma

reticuloendothelial malignancy

leukemia

epithelioma/malignant nevi

Build / Stature / Survival Anomalies

muscular build

wasted/poorly muscled build

generalized obesity

truncal obesity

eunucoid/feminine build in male

asymmetry of the body

tall stature

short stature/dwarfism

intrauterine growth retardation

stillbirth/neonatal death

premature ageing

prematurity difficulties for feeding in infancy

fetal hydrops

malignant hyperthermia

Prenatal Period Anomalies

Prenatal exposure to infectious agent antenatal exposure : toxoplasmosis

Prenatal exposure : cytomegalovirus antenatal exposure : syphilis

Prenatal exposure : rubella antenatal exposure : hepatitis

Prenatal exposure : influenza

Prenatal exposure : aids

Prenatal exposure : varicella

Prenatal exposure : onizing radiations

Prenatal exposure : chemical product

Prenatal exposure : antibiotics

Prenatal exposure : sedatives

Prenatal exposure : anticonvulsants

Prenatal exposure : iodures

Prenatal exposure : anticoagulatives

Prenatal exposure : insuline

Prenatal exposure : hormones

Prenatal exposure : alcohol

Prenatal exposure : cocaine/lsd

Prenatal exposure : antimiototics

maternal diabetes

maternal hypertension

maternal hyperphenylalaninemia

maternal seizures

oligoamnios

polyhydramnios

twinning (type unknown)

monozygotic twinning

dizygotic twinning

conjoined twinning

Chromosomal or Genetic Anomaly

autosomal dominant inheritance

autosomal recessive inheritance

x-linked dominant inheritance

x-linked recessive inheritance

polygenic inheritance

chromosomal anomaly (number)

submicroscopic deletion/duplication

chromosome breakage

fragile site (other than x q 28)

fragile site on x q 28

supernumenary marker chromosome

chromosomal rearrangement (familial)

chromosomal rearrangement (de novo)