UNSW Embryology

Abnormal Development - Australian Congenital Malformations Classifications

© Dr Mark Hill (2009)

Acknowledgements

Introduction

Data groupings and classification as Major or Minor Abnormalities are based on that used by the Australian Institute of Health and Welfare National Perinatal Statistics Unit, UNSW and published in Congenital Malformations Australia 1981-92.

For individual systems, data shown as a % of all Major Abnormalities based upon published statistics using the same groupings as CMA 81-92. Please note that some congenital diseases involve more than one system.

Reference: Original Data source for graphs from Congenital Malformations Australia 1981-1992, P. Lancaster and E. Pedisich, ISSN 1321-8352.

The classification groups for Major and Minor Abnormalities are also shown.

Major Congenital Malformations

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

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)

Minor Congenital Malformations

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

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

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

Other conditions

• balanced autosomal traanslocations
• birth injuries
• cephalhaematoma
• cystic fibrosis
• enzyme deficiencies
• hydrops fetalis
• meconium ileum
• metabolic disorders
• pyloric stenosis
• sternomastoid tumour
• torticollis
• volvulus

Malformations by System

Nervous System

Links: Neural Abnormalities | Neural Development