Major
Congenital Malformations
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Neural
- anencephalus
- spina bifida
- encephalocele
- microcephalus
- hydrocephalus
Cardiovascular
- transposition of great vessels
- ventricular septal defect
- hypoplastic left heart
- coarctaction of aorta
GIT/Respiratory
- cleft palate
- cleft lip
- oesophageal atresia or stenosis
- small intestine atresia or stenosis
- anorectal atresia or stenosis
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Renal
- hypospadias
- renal agenesis and dysgenesis
- cystic kidney disease
- obstructive defects of renal pelvis and
ureter
Skeletal/Muscular
- congenital dislocation of the hip
- limb reduction defects
- diaphragmatic hernia
- exomphalos
- gastroschisis
Chromosomal
- trisomy 21 (Down syndrome)
- trisomy 18 (Edwards syndrome)
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Minor
Congenital Malformations
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Skin
- skin cysts
- noncavernous single small hemangioma
(<10cm dia.)
- benign skin neoplasms
- nevus flammeus
- birth mark
- mongolian spots
- cutis marmorata
- cafe au lait spots
- scalp defects, cutis aplasia
- lanugo excessive or persistent
- pilonidal or sacral dimple
Skull
- brachycephaly, dolichocephaly,
plagiocephaly
- craniotabes
- large, small or absent fontanelles
- macrocephaly
- head assymetry
Face
- facial palsy
- facial assymetry
- micrognathia
- flat or wide nasal bridge, upturned nose, or
other minor nose malformations
- deviation of nasal septum
Eyes
- estropia, extropia, strabismus
- nystagmus
- blue sclera
- brushfield spots
- epicanthal folds
- eye slant (upward or downward)
- narrow palpebral fissures
- nasolacrimal duct
obstruction/dacryostenosis
Ears
- ear tags
- bat, cauliflower, elfin, lop, pointed,
posteriorly rotated, low-set ears
- darwins's tubercle
- preauricular sinus, cyst or pit
- macrotia
Mouth, tongue and palate
- tongue-tied
- longue cyst
- ranula
- cleft gum
- macroglossia
- microglossia
- nasal teeth
- big, wide or small lips
- bifid uvula
Neck
- brachial cleft or sinus
- redundant neck skin folds
- webbing of neck
- short neck
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Cardiovascular system
- patent ductus arteriosus or foramen ovale
(gestational age <37 weeks or birthweight
<2500g)
- mild, trivial, or physiological valvular
regurgitation
- cardiomegaly
- dextroposition of heart
- heart block
- persistent fetal circulation
- single umbilical artery
Gastrointestinal system
- hepatomegaly
- splenomegaly
- meckel's diverticuluum
- anal tags
- anal or rectal fissures
- inguinal hernia in males
- inguinal hernia in females (birthweight
<2500g)
- umbilical hernia (skin covered) Urogenital
system
- imperforate hymen
- prominent clitoris
- fusion of vulva
- vaginal or hymenal tags
- cyst of vagina, vulva, canal of Nuck, or
ovary
- hydrocele
- undescended testes (gestational age <37
weeks or birthweight <2500g)
- small penis
- chordee
- patent urachus or urachal cyst
- ectopic kidney
Limbs
- skin tags on hands and feet
- partial syndactyly of toes, webbing of
toes
- bradydactyly, unspecified
- clinodactyly
- camptodactyly
- flexion deformities of digits
- long fingers and toes
- nail hypoplasia
- enlarged or hypertrophic nails
- widely spaced first and second toes
- overlapping toes
- tibial torsion or bowing
- genuvalgum, varum or recurvatum
- dislocation of subluxation of knee
- hallux valgus
- hallux varus
- talipes calcaneovalgus, equinovarus
- cervical rib, other extra ribs
- rocker-bottom feet
- simian or Sydney lines, abnormal palmar
creases
- hip subluxation, clicky hips
Respiratory system
- hypoplastic lungs (gestational age <37
weeks)
- laryngeal stridor
- laryngomalacia
Other conditions
- balanced autosomal traanslocations
- birth injuries
- cephalhaematoma
- cystic fibrosis
- enzyme deficiencies
- hydrops fetalis
- meconium ileum
- metabolic disorders
- pyloric stenosis
- sternomastoid tumour
- torticollis
- volvulus
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WHO Definition-
Live Birth
Live birth is the complete expulsion or
extraction from its mother of a product of
conception, irrespective ot the duration of
pregancy, which, after separation, breathes or
shows evidence of life, such as the beating of the
heart, pulsation of the umbilical cord, or definite
movement of voluntary muscles, whether or not the
umbilical cord has been cut or the placenta is
attached; each product of such a birth is
considered liveborn.
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