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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
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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
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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 |
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eyebrows anomalies absent/decreased eyebrows thick/bushy eyebrows synophris high arched eyebrows flared eyebrows lateral thinning of eyebrows darker than expected eyebrows |
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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 |
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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 |
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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 |
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high vaulted/narrow palate short palate exostoses in palate immobile soft palate hypoplastic uvula broad alveolar ridge |
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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 |
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(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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |
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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) |
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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 |
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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 |
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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 |
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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 |
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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 |
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vascular hypertension atheromas aneurisms (excludes aorta) arterioveinous fistula visceral angiomatosis bruisability varicose veins acrocyanosis single umbilical artery aortic arches anomalies hemangioblastoma |
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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 |
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immunoglobulin dysfunction/reduction recurrent infections humoral immune deficit cellular immune deficit hyperimmunity anomalies of complement autoimmunity severe allergic reactions lymphadenopathy thymic aplasia/hypoplasia |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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) |