Paeds · genetics-dysmorphology-and-metabolism
Dysmorphology examination and syndrome recognition
Also known as Dysmorphology examination · Dysmorphic features assessment · Congenital anomaly examination · Syndrome recognition · Clinical dysmorphology
Fellowship approach to a structured dysmorphology examination using standard Elements of morphology terminology, classifying anomalies by mechanism and significance, generating and narrowing a syndrome differential, ordering first-tier chromosomal microarray then exome or genome, and communicating uncertainty and recurrence risk to a family.
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Target exams
Red flags
- Airway obstruction in a dysmorphic newborn (e.g. micrognathia, glossoptosis) — Robin sequence pathway
- Duct-dependent congenital heart lesion in a syndromic neonate
- Oesophageal atresia or choanal atresia preventing feeding or breathing — VACTERL / CHARGE until excluded
- Acute metabolic decompensation in a dysmorphic infant — inborn error may underlie the phenotype
- Loss of previously acquired skills alongside dysmorphism — neurodegenerative syndrome
- Three or more minor anomalies — look hard for an underlying syndrome
Life stages
Care settings
Clinical exam formats
Board mappings
- General and Community Paediatrics
- Genetics and metabolism
- Clinical genetics learning goal — dysmorphology assessment and syndrome recognition
- Genetics and Metabolism
- Short Cases
- Dysmorphology examination
- Genomic medicine
- Neurodevelopment and Neurodisability
- Foundation of Practice (FOP)
- Applied Knowledge in Practice (AKP)
- Clinical evaluation
- Communication
- General Pediatrics Content Outline — Domain 4: Genetic, Perinatal, and Maternal Medicine
- Patient Care — genetic and congenital disorders
- Medical Knowledge — dysmorphology and congenital anomalies
- Medical Expert
- Communicator
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Describe with standard terms (never guess) · Yield to measurements against norms · Search for a pattern, not one feature · Mechanism of each anomaly (malformation, disruption, deformation, dysplasia) · Organ by organ, head to toe · Recognise the syndrome gestalt then confirm · Photograph and document for the record · History of the family and pregnancy. [1] [3]
Overview & Definition
Dysmorphology is the clinical discipline of detecting, describing and interpreting structural variations, then using the pattern to recognise an underlying syndrome. It was built on a simple, powerful idea: a single odd feature is usually harmless, but a constellation of features points to a shared cause. The examination itself is therefore an exercise in disciplined description before diagnosis. You are collecting evidence, not jumping to a label. [1]
The examination differs from a general physical in three ways. First, it uses a controlled vocabulary — the Elements of morphology project — so that a clinician in Auckland and one in Aberdeen describe the same face in the same words. Second, it relies on measurements compared with population norms, because the eye is poor at judging whether a feature is truly abnormal or merely familial. Third, it deliberately looks for a pattern across body regions, since the diagnostic value lives in the combination rather than in any one sign. [1] [5]
A practical distinction runs through the whole assessment: a major anomaly has a real structural, medical or surgical consequence (a heart defect, cleft palate, neural tube defect), whereas a minor anomaly or normal variant does not, on its own, change management. The trap is to dismiss minor anomalies as cosmetic. Three or more minor anomalies in the same child substantially raises the chance of an underlying syndrome, because each one slightly shifts the prior probability and together they demand a search. [3] [5]
References13ShowHide
- [1]Allanson JE, Biesecker LG, Carey JC, Hennekam RC Elements of morphology: introduction. American Journal of Medical Genetics Part A, 2009.PMID 19127575
- [2]Allanson JE, Cunniff C, Hoyme HE, McGaughran J, Muenke M, Neri G Elements of morphology: standard terminology for the head and face. American Journal of Medical Genetics Part A, 2009.PMID 19125436
- [3]Hennekam RC, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK Elements of morphology: general terms for congenital anomalies. American Journal of Medical Genetics Part A, 2013.PMID 24124000
- [4]Biesecker LG, Adam MP, Chung BH, Kosaki K, Menke LA, White SM Elements of morphology: Standard terminology for the trunk and limbs. American Journal of Medical Genetics Part A, 2022.PMID 36062894
- [5]Carey JC, Allanson JE, Hennekam RC, Biesecker LG Standard terminology for phenotypic variations: the elements of morphology project, its current progress, and future directions. Human Mutation, 2012.PMID 22331827
- [6]Hammond P, Hutton TJ, Allanson JE, Buxton B, Campbell LE, Clayton-Smith J Discriminating power of localized three-dimensional facial morphology. American Journal of Human Genetics, 2005.PMID 16380911
- [7]Moeschler JB, Shevell M Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics, 2006.PMID 16740881
- [8]Moeschler JB, Shevell M Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics, 2014.PMID 25157020
- [9]Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP 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
- [10]Manickam K, McClain MR, Demmer LA, Biswas S, Kearney HM, Malinowski J Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine, 2021.PMID 34211152
- [11]Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genetics in Medicine, 2019.PMID 31182824
- [12]Gurovich Y, Hanani Y, Bar O, Nadav G, Fleischer N, Gelbman D Identifying facial phenotypes of genetic disorders using deep learning. Nature Medicine, 2019.PMID 30617323
- [13]Hoyme HE, May PA, Kalberg WO, Kodituwakku P, Gossage JP, Trujillo PM A practical clinical approach to diagnosis of fetal alcohol spectrum disorders: clarification of the 1996 Institute of Medicine criteria. Pediatrics, 2005.PMID 15629980