Paeds · fetal-neonatal-and-perinatal

Congenital anomalies and dysmorphic newborn assessment

Also known as Dysmorphic newborn · Birth defects assessment · Congenital malformation evaluation · Dysmorphology examination · Syndromic newborn · Approach to the child with congenital anomalies

Fellowship-level approach to the newborn with a congenital anomaly or dysmorphic features: recognising major malformations and minor anomalies across every body region, clustering findings into a syndromic pattern, the diagnostic ladder from karyotype to chromosomal microarray to rapid exome/genome sequencing, the four mechanisms of congenital anomalies (chromosomal, single-gene, teratogenic, multifactorial), urgent stabilisation of life-threatening defects, genetics referral and family counselling, and ANZ/UK/US/Canada surveillance and programme differences.

high12 referencesUpdated 12 July 202619 min readVerification in progress

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Target exams

RACP General PaediatricsRACP DWERACP DCERCPCH Progress+MRCPCH TheoryMRCPCH ClinicalABP General PediatricsACGME PediatricsRCPSC Pediatrics

Red flags

Choanal atresia — failure to pass a nasogastric tube; cyanosis relieved by crying; bilateral is an airway emergencyBilious vomiting with a congenital anomaly — think malrotation, Hirschsprung, or duodenal atresia (Trisomy 21); nil-by-mouth and urgent surgical referralOmphalocele or gastroschisis — exposed viscera; cover, prevent heat and fluid loss, urgent surgical transferDuct-dependent congenital heart disease accompanying a syndrome — low or differential saturations; start prostaglandins before collapseCleft palate with airway obstruction (Pierre Robin sequence) — prone positioning or airway adjunct may be needed to obstruct the airwayAmbiguous genitalia / disorder of sex development — adrenal crisis risk in congenital adrenal hyperplasia; check electrolytes and glucose urgentlyAn imperforate anus or absent anal opening — check patency in every newborn; delays cause bowel perforationMultiple major anomalies or three or more minor anomalies — high probability of an underlying syndrome; refer for genetics

Life stages

fetalneonate

Care settings

delivery-roomnicuwardoutpatiented-acute

Clinical exam formats

written-onlyracp-dce-long-caseracp-dce-short-casemrcpch-short-clinicalrcpsc-structured-oral

Board mappings

Neonatology — congenital anomalies and the dysmorphic newbornGeneral and Community Paediatrics — recognition of birth defectsLearning goal: recognition and management of congenital anomalies and the dysmorphic newbornLearning goal: approach to the child with a suspected genetic syndromeNeonatology — assessment of the dysmorphic newbornClinical Applications — genetic testing and referral pathwaysShort Cases — dysmorphic features and congenital anomaliesLong Cases — syndromic newborn and multidisciplinary management1. Frameworks for clinical practice — dysmorphology assessment8. Lead and collaborate within teams — genetics referral and counsellingFoundation of Practice (FOP) — congenital anomalies and dysmorphismApplied Knowledge in Practice (AKP) — genetic testing and recurrence riskExamination — dysmorphic featuresCommunication — counselling parents about a congenital anomalyHistory — family history and consanguinityGeneral Pediatrics Content Outline — Domain 3: Fetus and Newborn Infant, congenital malformationsGeneral Pediatrics Content Outline — Domain 9: GeneticsPatient Care 5: Patient Management of congenital anomaliesMedical Knowledge 1: Neonatology and congenital malformationsSystems-Based Practice — multidisciplinary and genetics referralMedical Expert — dysmorphic newborn assessmentCommunicator — discussing a diagnosis and recurrence risk with familiesCollaborator — working with clinical genetics and surgical teams

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Target exams

RACP General PaediatricsRACP DWERACP DCERCPCH Progress+MRCPCH TheoryMRCPCH ClinicalABP General PediatricsACGME PediatricsRCPSC Pediatrics

Red flags

Life stages

fetalneonate

Care settings

delivery-roomnicuwardoutpatiented-acute

Clinical exam formats

written-onlyracp-dce-long-caseracp-dce-short-casemrcpch-short-clinicalrcpsc-structured-oral

Board mappings

The fellowship answer

A congenital anomaly is a structural or functional defect present at birth, and the dysmorphic newborn is the baby whose pattern of minor or major features suggests an underlying syndrome. The job at the bedside is three moves: recognise the anomaly, cluster the findings into a pattern, and refer for genetics with the right test attached. Measure everything, walk every region head-to-toe, take a three-generation family history, and photograph the findings — because syndromes are patterns, and patterns need to be documented to be recognised. Stabilise the life-threatening defects first (airway, duct-dependent heart, bowel obstruction), then build the diagnostic ladder from karyotype for the obvious trisomy, through chromosomal microarray as first-line, to rapid exome or genome sequencing for the unexplained sick infant. [1] [2]

Overview & Definition

A registrar is called to the postnatal ward to see a baby with an unusual face and a clubfoot. The parents are frightened and the question is not one finding but the whole pattern. This is a defining general-paediatrics task, because the answer changes the child's surveillance, the family's recurrence risk, and the conversation for the rest of their lives. [1]

A congenital anomaly is a structural, functional, or metabolic defect present from birth, whether or not it is obvious at delivery. The umbrella term covers malformations (abnormal formation of tissue), deformations (abnormal shaping of normally formed tissue by mechanical force), disruptions (destruction of normally formed tissue), and dysplasia (abnormal organisation of cells). [1]

The dysmorphic newborn is the baby whose constellation of features — usually a mix of one major anomaly and several minor ones — suggests an underlying syndromic or chromosomal cause. The skill is not naming every syndrome from memory; it is recognising that a pattern exists and organising the work-up that will name it. [2]

Separate major anomalies (those with surgical, cosmetic, or functional consequence, affecting roughly 3 per cent of newborns) from minor anomalies (cosmetic variants present in about 15 per cent). A single minor anomaly is usually nothing; three or more minor anomalies raises the probability of an underlying syndrome sharply, because they cluster when a developmental field is disrupted. [1]

Paediatrics Fellowship Pro

You have read the opening of this topic. The complete unit — every section and its primary-source references — is part of the Paediatrics Fellowship fellowship atlas.

References12Show ledger

[1]Webber DM Developments in our understanding of the genetic basis of birth defects. Birth Defects Research Part A: Clinical and Molecular Teratology, 2015.PMID 26033863
[2]Miller DT Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics, 2010.PMID 20466091
[3]Antonarakis SE Down syndrome. Nature Reviews Disease Primers, 2020.PMID 32029743
[4]Dixon MJ Cleft lip and palate: understanding genetic and environmental influences. Nature Reviews Genetics, 2011.PMID 21331089
[5]Copp AJ Spina bifida. Nature Reviews Disease Primers, 2015.PMID 27189655
[6]Arth A A 2015 global update on folic acid-preventable spina bifida and anencephaly. Birth Defects Research Part A: Clinical and Molecular Teratology, 2016.PMID 27418029
[7]Hoyme HE Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders. Pediatrics, 2016.PMID 27464676
[8]Scheuerle AE Defect evaluation by infant photographs in a multicenter pharmaceutical clinical trial. Birth Defects Research, 2020.PMID 31746564
[9]Cooper DM Treatment of idiopathic clubfoot. A thirty-year follow-up note. The Journal of Bone and Joint Surgery American Volume, 1995.PMID 7593056
[10]Lalani SR Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. American Journal of Human Genetics, 2006.PMID 16400610
[11]Petrikin JE The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill children. NPJ Genomic Medicine, 2018.PMID 29449963
[12]D'Gama AM Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. The Lancet Neurology, 2023.PMID 37596007

Congenital anomalies and dysmorphic newborn assessment

Also known as Dysmorphic newborn · Birth defects assessment · Congenital malformation evaluation · Dysmorphology examination · Syndromic newborn · Approach to the child with congenital anomalies

high12 referencesUpdated 12 July 202619 min readVerification in progress

Practise this topic

Overview & Definition

Paediatrics Fellowship Pro

You have read the opening of this topic. The complete unit — every section and its primary-source references — is part of the Paediatrics Fellowship fellowship atlas.

References12Show ledger

[1]Webber DM Developments in our understanding of the genetic basis of birth defects. Birth Defects Research Part A: Clinical and Molecular Teratology, 2015.PMID 26033863
[2]Miller DT Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics, 2010.PMID 20466091
[3]Antonarakis SE Down syndrome. Nature Reviews Disease Primers, 2020.PMID 32029743
[4]Dixon MJ Cleft lip and palate: understanding genetic and environmental influences. Nature Reviews Genetics, 2011.PMID 21331089
[5]Copp AJ Spina bifida. Nature Reviews Disease Primers, 2015.PMID 27189655
[6]Arth A A 2015 global update on folic acid-preventable spina bifida and anencephaly. Birth Defects Research Part A: Clinical and Molecular Teratology, 2016.PMID 27418029
[7]Hoyme HE Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders. Pediatrics, 2016.PMID 27464676
[8]Scheuerle AE Defect evaluation by infant photographs in a multicenter pharmaceutical clinical trial. Birth Defects Research, 2020.PMID 31746564
[9]Cooper DM Treatment of idiopathic clubfoot. A thirty-year follow-up note. The Journal of Bone and Joint Surgery American Volume, 1995.PMID 7593056
[10]Lalani SR Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. American Journal of Human Genetics, 2006.PMID 16400610
[11]Petrikin JE The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill children. NPJ Genomic Medicine, 2018.PMID 29449963
[12]D'Gama AM Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. The Lancet Neurology, 2023.PMID 37596007