Makindo Medical Notes

🧒 A dysmorphic child presents with one or more physical abnormalities that may suggest an underlying congenital syndrome or genetic disorder. Recognising these features is vital for diagnosis, management, and prognosis.
🧬 Dysmorphology is the study of congenital structural differences, focusing on syndromes and developmental anomalies.

👀 Common Dysmorphic Features

These are physical traits deviating from the norm. They may involve any system, but often affect the face, head, and limbs:

• Facial Features:
  • 👶 Micrognathia (small jaw)
  • 👁️ Hypertelorism (wide-set eyes)
  • 👂 Low-set ears
  • 👃 Flattened nasal bridge
  • 👄 Cleft lip/palate
  • ↗️ Up-slanting or ↘️ down-slanting palpebral fissures
• Cranial Features:
  • 🧠 Microcephaly (small head)
  • 🧠 Macrocephaly (large head)
  • 🧠 Brachycephaly (short, broad head)
  • 🧠 Plagiocephaly (asymmetric head shape)
• Limb Anomalies:
  • 🖐️ Polydactyly (extra digits)
  • 🤲 Syndactyly (webbing)
  • 🦶 Clubfoot (talipes equinovarus)
  • 📏 Shortened limbs (rhizomelia/mesomelia)
• Other Features:
  • ❤️ Congenital heart defects (ASD, VSD)
  • 🦴 Spinal anomalies
  • 🚻 Genitourinary abnormalities

🧬 Causes of Dysmorphic Features

• Genetic Syndromes: chromosomal, single-gene or multifactorial:
  • ⬇️ Down Syndrome (Trisomy 21): epicanthic folds, single palmar crease, flat profile
  • ♀️ Turner Syndrome (45,XO): short stature, webbed neck, shield chest
  • 📏 Marfan Syndrome: tall stature, long limbs, pectus deformity, lens dislocation
  • 🔒 Apert Syndrome: craniosynostosis, fused digits, abnormal facial development
• Teratogens: 🚫 Alcohol (FAS), 💊 drugs (e.g. thalidomide), 🦠 infections (rubella)
• Sporadic Mutations: random changes causing isolated or syndromic features

📋 Approach to Diagnosis

Requires a systematic history, examination, and targeted investigations.

📝 History Taking

• 👪 Family: similar features, known syndromes, consanguinity
• 🤰 Pregnancy: maternal drugs, alcohol, infections, teratogens
• 🚼 Birth: prematurity, low birth weight, complications
• 🧩 Development: milestones, delays (motor, social, cognitive)

🔎 Examination

• Inspect head, face, limbs, and organ systems
• 📏 Measure growth: head circumference, height, weight → microcephaly, overgrowth, short stature

🧪 Investigations

• Genetics: Karyotype, chromosomal microarray, FISH, exome sequencing
• Imaging: CT/MRI for craniofacial, brain, skeletal anomalies
• Cardiac: Echocardiography for CHD (e.g. AVSD in Down’s, coarctation in Turner’s)
• Metabolic: screen for inborn errors (amino/organic acids)

⚕️ Management

Multidisciplinary care addressing both the syndrome and associated complications:

• 🧬 Genetic counselling: inheritance, recurrence risk, prenatal options
• 🧑‍🏫 Developmental support: speech/physio/OT/early intervention
• 💊 Medical management: treat cardiac, renal, endocrine, or sensory problems
• 🔧 Surgery: craniofacial repair, limb correction, CHD repair
• 📆 Follow-up: monitor growth, development, and emerging features (e.g. Marfan complications)

📈 Prognosis

Outcome depends on the underlying cause. Some children with mild features live normal lives, others face complex health issues. Early recognition + intervention = better long-term outcomes 🌟.

📚 References

• Genetic Syndromes and Dysmorphology Overview - NCBI
• UpToDate: Approach to the dysmorphic infant or child