Genetic Syndromes
Dysmorphology and inherited syndromes to recognise.
Use as a study guide only. These notes are part of a free open-access medical education (FOAMed) project and may contain errors or outdated information. Always verify against current guidelines (e.g. eTG, RACGP, local health district policies) and reputable sources before applying anything to patient care. See the full disclaimer.
Clinical pearls & learnings
Tips and tricks collected over the years — a living list that grows with every rotation. Use as a study guide only and check current guidelines before acting on anything.
Genetic & congenital syndromes
Branchio-oto-renal syndrome (BORS / Melnick–Fraser syndrome)
Autosomal dominant. Branchial arch anomalies (cysts, sinuses, periauricular pits or fistulas), hearing loss, malformed ears, and renal abnormalities — screen the kidneys and hearing in any child with preauricular pits or branchial sinuses.
WAGR syndrome
W-A-G-R — the four components
| Letter | Feature | Implication |
|---|---|---|
| W | Wilms tumour | Rare malignant kidney cancer of early childhood — needs routine surveillance ultrasounds through early childhood |
| A | Aniridia — partial or complete absence of the iris | Poor vision, nystagmus, light sensitivity |
| G | Genitourinary anomalies | Undescended testes, underdeveloped ovaries, bicornuate uterus |
| R | Range of intellectual/developmental disability | Cognitive delay, learning difficulty, speech impairment — watch for comorbid ADHD, autism spectrum disorder, depression or anxiety |
CHARGE syndrome
C-H-A-R-G-E — the six components
| Letter | Feature | Implication |
|---|---|---|
| C | Coloboma — missing ocular tissue | Can affect vision |
| H | Heart defects | Often congenital (e.g. TGA), frequently needing surgery in early infancy |
| A | Atresia of the choanae | Nasal passage blockage causing severe breathing and feeding difficulty |
| R | Retarded growth and development | Pre- and postnatal growth delay with developmental delay |
| G | Genital abnormalities | Underdeveloped or structurally different reproductive organs |
| E | Ear anomalies | Malformed outer/middle/inner ear with hearing loss, balance and cranial nerve issues |
Klinefelter syndrome (47,XXY)
Tall stature, small testes, gynaecomastia, and reduced bone density.
UGT1A1 disorders: Gilbert vs Crigler-Najjar syndrome
| Syndrome | UGT1A1 activity | Severity |
|---|---|---|
| Gilbert syndrome | Partial deficiency | Mild, intermittent unconjugated hyperbilirubinaemia — benign |
| Crigler–Najjar syndrome | Severe/absent deficiency | Marked unconjugated hyperbilirubinaemia — high risk of kernicterus and liver damage |