Achondroplasia & Skeletal Dysplasia - Bedside Clinical Proforma

1. Patient Demographics & Disproportion Classification

• Name: Patient Name | Age: Years / Months | Sex: Male / Female
• Paternal Age at Conception: ... years (Advanced paternal age >35-40y correlates with de novo FGFR3 mutations)
• Maternal Age: ... years | Consanguinity: Present / Absent
• Height: ... cm | Height Z-score: ... SD (WHO/IAP) | Achondroplasia Chart Centile: ...
• Weight: ... kg | BMI: ... kg/m2 (Monitor strictly for childhood obesity)
• Head Circumference: ... cm | HC Z-score: ... SD (True Macrocephaly >+2 SD)
• Segmental Measurements:
  • Upper Segment (US): Crown to pubic symphysis = ... cm
  • Lower Segment (LS): Pubic symphysis to floor = ... cm
  • US:LS Ratio: ... : 1 (Markedly elevated for age; normal at 4y is 1.2:1)
  • Arm Span: ... cm (Span is < Height by ... cm)
• Type of Disproportion: Rhizomelic (Proximal limbs: Humerus/Femur) / Mesomelic / Acromelic

2. Craniofacial & Airway Stigmata

• Macrocephaly with prominent Frontal Bossing & Parietal prominence
• Midface Hypoplasia with deeply depressed, flattened nasal bridge
• Mandibular Prognathism (relative) / Class III dental malocclusion
• Recurrent otitis media / Hearing screening (Conductive hearing loss)
• Sleep-disordered breathing / Apnea evaluation (Central vs Obstructive)

3. Musculoskeletal & Spine Examination

• Upper Limbs & Hands:
  • Rhizomelia of arms / Restricted elbow extension (... degrees)
  • Trident Hand Deformity (Main en Trident): Persistent wedge gap between 3rd and 4th digits
  • Brachydactyly (short, broad, equal-length fingers)
• Spine & Pelvis:
  • Infantile Thoracolumbar Kyphosis (Gibbus): Present / Resolved on standing
  • Exaggerated Lumbar Lordosis: Prominent anterior pelvic tilt with protruding buttocks and abdomen
• Lower Limbs:
  • Rhizomelia of thighs
  • Genu Varum (Bow legs): Intercondylar distance with medial malleoli touching = ... cm
  • Gait: Broad-based, slightly waddling gait

4. Neurological & Craniocervical Compression Surveillance

• Foramen Magnum Stenosis Red Flags (Lethal Infant Hazard):
  • Central sleep apnea / Respiratory pauses during sleep
  • Motor tone: Benign trunk hypotonia in infancy / Hypertonia of limbs
  • Deep Tendon Reflexes: Knee and ankle jerks (2+ / 3+ hyperreflexia)
  • Ankle Clonus: Absent / Sustained beats
  • Plantar Response: Flexor / Extensor (Babinski sign)
  • Head control delay / Quadriparesis signs
• Spinal Canal Stenosis Red Flags (Adolescents & Adults):
  • Neurogenic Claudication: Leg pain/numbness on walking relieved by bending forward or squatting
  • Bladder / Bowel sphincter symptoms

5. Radiological Skeletal Survey Findings

• Lumbosacral Spine (AP): PROGRESSIVE NARROWING of Interpedicular Distance from L1 to L5
• Lateral Spine: Short pedicles, posterior vertebral scalloping, exaggerated lordosis
• Pelvis (AP): 'Champagne Glass' pelvic inlet, tombstone square iliac wings, horizontal acetabula
• Tubular Long Bones: Short thick femurs with flared metaphyses and CHEVRON (inverted-V) sign
• Skull (Lateral): Small contracted skull base with small foramen magnum, enlarged calvarium

6. Molecular Genetics & Management Protocol

• Molecular Testing: FGFR3 gene mutation: Heterozygous c.1138G>A (p.Gly380Arg) confirmed
• Neuroimaging: Baseline Brain & Cervical Spine MRI (Cervicomedullary junction flow space)
• Targeted Medical Therapy: Vosoritide (CNP analog) 15 mcg/kg SC daily (restores endochondral growth)
• Spinal Hygiene: Avoid unsupported infant sitting, umbrella strollers, or baby carriers that induce gibbus
• Orthopedic Care: Monitor genu varum; 8-plate guided growth if intercondylar distance >5 cm
• Nutritional Counseling: Strict calorie monitoring to prevent obesity and reduce spinal canal compression