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.
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Target exams
Red flags
- Choanal atresia — failure to pass a nasogastric tube; cyanosis relieved by crying; bilateral is an airway emergency
- Bilious vomiting with a congenital anomaly — think malrotation, Hirschsprung, or duodenal atresia (Trisomy 21); nil-by-mouth and urgent surgical referral
- Omphalocele or gastroschisis — exposed viscera; cover, prevent heat and fluid loss, urgent surgical transfer
- Duct-dependent congenital heart disease accompanying a syndrome — low or differential saturations; start prostaglandins before collapse
- Cleft palate with airway obstruction (Pierre Robin sequence) — prone positioning or airway adjunct may be needed to obstruct the airway
- Ambiguous genitalia / disorder of sex development — adrenal crisis risk in congenital adrenal hyperplasia; check electrolytes and glucose urgently
- An imperforate anus or absent anal opening — check patency in every newborn; delays cause bowel perforation
- Multiple major anomalies or three or more minor anomalies — high probability of an underlying syndrome; refer for genetics
Life stages
Care settings
Clinical exam formats
Board mappings
- Neonatology — congenital anomalies and the dysmorphic newborn
- General and Community Paediatrics — recognition of birth defects
- Learning goal: recognition and management of congenital anomalies and the dysmorphic newborn
- Learning goal: approach to the child with a suspected genetic syndrome
- Neonatology — assessment of the dysmorphic newborn
- Clinical Applications — genetic testing and referral pathways
- Short Cases — dysmorphic features and congenital anomalies
- Long Cases — syndromic newborn and multidisciplinary management
- 1. Frameworks for clinical practice — dysmorphology assessment
- 8. Lead and collaborate within teams — genetics referral and counselling
- Foundation of Practice (FOP) — congenital anomalies and dysmorphism
- Applied Knowledge in Practice (AKP) — genetic testing and recurrence risk
- Examination — dysmorphic features
- Communication — counselling parents about a congenital anomaly
- History — family history and consanguinity
- General Pediatrics Content Outline — Domain 3: Fetus and Newborn Infant, congenital malformations
- General Pediatrics Content Outline — Domain 9: Genetics
- Patient Care 5: Patient Management of congenital anomalies
- Medical Knowledge 1: Neonatology and congenital malformations
- Systems-Based Practice — multidisciplinary and genetics referral
- Medical Expert — dysmorphic newborn assessment
- Communicator — discussing a diagnosis and recurrence risk with families
- Collaborator — working with clinical genetics and surgical teams
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]
References12ShowHide
- [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