Patau Syndrome (Trisomy 13) 👶🧬:
A rare, severe chromosomal disorder caused by an extra copy of chromosome 13.
Most infants survive only days to weeks due to multiple congenital malformations.
About ℹ️
- Incidence: ~1 in 10,000 live births.
- Mean survival time: 2–3 days (most die within the first weeks of life).
- Usually sporadic, not inherited.
- Risk ↑ with advanced maternal age.
Clinical Features 👩⚕️
- Brain: Holoprosencephaly (failure of forebrain to divide).
- Limbs: Polydactyly (extra fingers/toes), flexed fingers, rocker-bottom feet 👣.
- Face: Cleft lip ± cleft palate.
- Heart: Severe congenital cardiac defects (e.g., VSDs, PDA).
- Neural tube defects: Spina bifida, anencephaly may occur.
- Severe developmental delay & growth restriction.
Key Differentials 🧩
- Edwards Syndrome (Trisomy 18) – overlapping features (clenched hands, rocker-bottom feet).
- Down Syndrome (Trisomy 21) – less severe, distinctive facies, intellectual disability.
- Other multiple congenital anomaly syndromes.
Investigations 🔬
- Karyotyping: Definitive test confirming Trisomy 13.
- Prenatal: Ultrasound → facial/brain/heart anomalies; NIPT detects extra chromosome 13.
- CVS / Amniocentesis: for prenatal confirmation.
Management ❤️
- Supportive & palliative care: No curative treatment.
- Multidisciplinary input: Neonatology, cardiology, neurology, surgery, and genetics.
- Palliative approach: Prioritises comfort, dignity, and family support.
- Genetic counselling for parents (recurrence risk usually low, but maternal age is a factor).
Prognosis 📈
- Most affected infants die within the first month.
- Rare survivors often have profound neurodevelopmental impairment.
References 📚
💡 Exam Pearl
Think “13 = unlucky” 🍀❌:
Severe, often fatal congenital anomalies (holoprosencephaly, polydactyly, cleft lip/palate, congenital heart disease).
Karyotype is diagnostic ✅.
