Dwarfism: Skeletal Dysplasia Features, Comorbidities & Multidisciplinary Care

Dwarfism = adult height ≤4'10" (147 cm) due to medical/genetic condition. >400 types; Achondroplasia (FGFR3) most common (70%).

Physical Features (Achondroplasia Prototype)

• Disproportionate short stature: Short limbs (rhizomelic), normal trunk.
• Macrocephaly, frontal bossing, midface hypoplasia, trident hands.
• Lumbar lordosis, genu varum, spinal stenosis (foramen magnum, lumbar).
• Joint laxity → instability; early osteoarthritis.

Associated Conditions

• Neurologic: Hydrocephalus (↑ venous pressure), cervicomedullary compression (apnea, quadriparesis risk).
• Respiratory: Restrictive lung disease, OSA (midface hypoplasia).
• ENT: Chronic OM, hearing loss.
• Dental: Malocclusion, crowding.
• Psychosocial: Accessibility barriers, stigma, pain, fatigue.

Care Model

• Skeletal dysplasia clinic: Genetics, ortho, neuro, pulmonology, OT/PT, psychology.
• Surveillance: Foramen magnum MRI (infancy), sleep study, spinal imaging.
• Adaptive equipment, environmental modification, peer support (LPA).