🤰 Antenatal History:
- Maternal age and health during pregnancy
- Exposure to teratogens (💊 medications, 🍷 alcohol, 🚬 smoking)
- Infections (e.g., rubella, CMV)
- Pregnancy complications (e.g., gestational diabetes, preeclampsia)
👨‍👩‍👧 Family History:
- Genetic or chromosomal disorders
- Congenital abnormalities in siblings/relatives
- Consanguinity 🧬
👶 Birth History:
- Gestational age (preterm, term, post-term)
- Mode of delivery & complications (e.g., emergency C-section)
- Birth weight & Apgar scores
📈 Developmental Milestones: Track motor, speech, and social development — delays may suggest underlying abnormality.
🩺 Presenting Symptoms: Features noticed by parents (e.g., unusual facial features, limb deformity, feeding issues).

👁️‍🗨️ Physical Examination

👀 General Inspection: Dysmorphic features, asymmetry, abnormal appearance.
🧑‍🦱 Head & Neck:
- Head size/shape (macrocephaly, microcephaly)
- Facial anomalies (low-set ears, cleft lip/palate)
- Short/webbed neck
🫀 Chest: Chest deformity, heart murmurs.
🫄 Abdomen: Organomegaly, abdominal wall defects, umbilical abnormalities.
🦵 Limbs:
- Polydactyly, syndactyly, talipes (clubfoot)
- Joint deformities or restricted movement
🧠 Neurological: Reflexes, tone, symmetry, developmental response.
⚕️ Genitourinary: Ambiguous genitalia, hypospadias, undescended testes.

🔬 Investigations

🧬 Genetic Testing:
- Karyotype (e.g., Down syndrome)
- Targeted gene panels
🖼️ Imaging:
- Ultrasound (heart, renal, CNS)
- X-rays (skeletal anomalies)
- MRI/CT for detailed assessment
🧪 Blood Tests:
- Metabolic screen (PKU, galactosemia)
- Thyroid function (hypothyroidism)
- FBC (anaemia, infection)
👂👁️ Screening: Hearing & vision checks; echocardiography if heart murmur/defect suspected.

🧾 Possible Congenital Abnormalities

🧬 Chromosomal: Down syndrome (Trisomy 21), Turner (45,X), Klinefelter (47,XXY)
🫀 Structural: Heart defects (VSD, TOF), neural tube defects (spina bifida), cleft lip/palate
🧪 Metabolic: PKU, maple syrup urine disease, galactosemia
🦴 Musculoskeletal: Achondroplasia, clubfoot, polydactyly/syndactyly
⚕️ Genitourinary: Renal agenesis, hypospadias, ambiguous genitalia

🛠️ Management

👩‍⚕️ Multidisciplinary Care: Genetics, cardiology, orthopaedics, endocrinology, paediatrics.
🚼 Early Intervention: Physio, OT, speech therapy, special education input.
🧬 Genetic Counselling: For family planning & recurrence risk.
💊 Symptom Management: Surgery (e.g., cleft repair, VSD closure), diet (PKU), hormone replacement.
🤝 Psychosocial Support: Support groups, counselling, resources for families.
📅 Follow-up: Growth & development monitoring, surveillance for complications.

📊 Examples of Congenital Abnormalities

Condition	Description	Tests	Management
🫀 Congenital Heart Defect (e.g., VSD, TOF)	Structural heart abnormality present at birth	Echocardiogram, ECG, CXR, MRI	Surgical repair, meds for heart failure, regular cardiology FU
🧠 Spina Bifida	Incomplete closure of neural tube	Prenatal USS, AFP, MRI	Early surgical closure, physio, bladder/bowel care
🧬 Down Syndrome (Trisomy 21)	Extra chromosome 21, with dysmorphic features + developmental delay	Karyotype, prenatal screening, echo, TFTs	Early therapies, medical monitoring, educational support
👄 Cleft Lip/Palate	Failure of fusion of lip/palate structures	Prenatal USS, postnatal exam, ENT/dental assessment	Surgical repair, speech therapy, orthodontics, feeding support
🦵 Congenital Hip Dysplasia	Abnormal development of acetabulum/hip joint	Barlow/Ortolani, USS, X-ray	Pavlik harness, surgery if severe, ortho FU
🌬️ Cystic Fibrosis	CFTR mutation → thick mucus in lungs/GI	Sweat chloride test, genetic test, CXR	Airway clearance, enzymes, antibiotics, CF specialist care
🦋 Congenital Hypothyroidism	Absent or underactive thyroid gland	Newborn screen, TFTs, USS	Levothyroxine lifelong, early treatment prevents ID
🧪 PKU	Defect in phenylalanine metabolism → toxic accumulation	Newborn Guthrie test, phenylalanine levels	Low-Phe diet, specialist formula, lifelong monitoring

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Congenital abnormalities

📖 Clinical History

👁️‍🗨️ Physical Examination

🔬 Investigations

🧾 Possible Congenital Abnormalities

🛠️ Management

📊 Examples of Congenital Abnormalities

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