Challenges and solutions in the treatment of spinal disorders in patients with skeletal dysplasia: A comprehensive review

Table 1 Spinal disorders associated with skeletal dysplasia

Group/name of disorder	Inheritance	Gene	Case-control studies	Cohort studies	Hydroxy	Choline kinase	Atlantoaxial instability	Basilar invagination	Chronic viral B-hepatitis	Thoracolumbar kyphosis	Scoliosis	Lumbar canal stenosis
Achondroplasia	AD	Fibroblast growth factor receptor 3	+++			+				+++		+++
Hypochondroplasia											++	+++
Thanatophoric dysplasia			+++	+++						+++
Diastrophic dysplasia	AR	Solute carrier 26A		++	+++	+++			+++	++	++
Spondyloepiphyseal dysplasia congenita	AD/AR	Collagen type alpha 1 chain			+++		+++	+++
Kneist syndrome	AD			+		+	++	+		++	++
Pseudoachondroplasia	AD	Cartilage oligomeric matrix protein			+++		+++				++	+
Metatrophic dysplasia	AD	Transient receptor potential vanilloid type 4		+	+
Campomelic dysplasia	AD	Sex determining region Y (SRY)-box 9		++	++					++	++
MPS I	AR	Iduronidase	++	++	++		++			+++		+
MPS IV		Galactosamine-6-sulfate	+++	+	+++		+++			++	++
MPS VI		Arysulfatase B	++	+	++		++			++

AD: Autosomal dominant; AR: Autosomal recessive; MPS: Mucopolysaccharidoses; +: Case report; ++: Common; +++: Ubiquitous.

Table 2 List of studies on surgical management of spinal disorders in achondroplasia

Ref.	Spinal disorder	Type of study	Sample size (male/female)	Mean age (years) (SD)	Total surgeries	Surgical levels decompressed	Median follow-up	Indications of primary surgery	Revision surgery indications (early)	Revision surgery indications (late)	Late revision surgery types	Complications	Outcomes
Urbanschitz et al[30], 2024	Thoracolumbar spinal stenosis	Retrospective	15 (8/7)	52 (10.4)	31 (primary: 12/revision: 19)	79	24 months (interquartile range: 34 months; range: 4-85 months)	Myelopathy: 5; spinal claudication: 4; paraparesis: 2; acute foot drop: 1	3/19 (complication within 30 days: Dural tear, wound healing disorder, adjacent segment collapse)	16/19 (spinal stenosis: 7; hyperkyphosis: 4; adjacent segment disease: 2; pseudoarthrosis: 2; posttraumatic deformity: 1)	Decompression: 5; decompression + fusion: 8; alignment correction with osteotomy: 3)	Dural tear: 11; implant failure: 2; wound disorder: 2; urosepsis: 1	Full recovery: 5; partial recovery: 11; no improvement: 2
Hariharan et al[31], 2024	Spinal stenosis	Retrospective	33	18.7 (10.1)	33 (24 selected for analysis)		-	-	-			Caudal pseudarthrosis: 8; proximal junctional kyphosis: 7; new neurological symptoms: 7
Tanaka et al[28], 2022	TLK	Retrospective case series	3 (2/1)	22.3	3	Posterior vertebral column resection	9.3 years	Severe TLK with neurological deficits and urinary disturbance	Surgery: Posterior vertebral column resection with cage and segmental instrumentation			Rod breakage, surgical site infection	Average Japanese Orthopedic Association score improved from 8.3/11 to 10.7/11 (mean recovery rate: 83%); 67% kyphotic angle correction
Sciubba et al[29], 2007	Spinal stenosis. Surgery: Decompression +/- fusion	Retrospective	44 (25/19)	12.7	60 decompressive surgeries	Thoracolumbar (65.3%), lumbar (20.4%), cervical (8%), cervicothoracic (4%), thoracic (2%)	34 months	Neurogenic claudication (91%), pain (95.4%), cauda equina syndrome (25%), myelopathy (4.5%)	Disc herniation at L2-3 within a previous laminectomy	Progressive deformity, junctional stenosis, and recurrence of symptoms		Dural tear: 4, wound breakdown: 2, radicular pain: 3	32 patients showed improvement in symptoms
Matsumoto et al[32], 2006	TLK, surgery: Posterior osteotomy with segmental instrumentation	Case report	4 (3/1)	32.5	4	Thoracolumbar	35 months	Severe TLK with neurologic deficit				Dural tear and partial nerve root laceration: 2	Mean recovery rate: 75%

TLK: Thoracolumbar kyphosis.

Table 3 Summary of surgical management of spinal disorders in various skeletal dysplasias

Skeletal dysplasia (incidence)	Common spinal disorders	Nonsurgical management	Surgical management
Achondroplasia (1:20000-1:30000)	Foramen magnum stenosis neurological complications	Regular monitoring with magnetic resonance imaging and X-rays. Physical therapy for posture and strength. Pain management. Ergonomic modifications	Decompression surgery if severe compression or neurological symptoms occur
Hypochondroplasia (1:15000-1:40000)	Spinal stenosis: Degenerative disc disease	Physical therapy. Pain management. Ergonomic modifications. Regular spinal assessments	Surgical intervention for severe stenosis or radiculopathy. Decompression surgery
Spondyloepiphyseal dysplasia congenita (1:100000)	AAI, OH, scoliosis	Physical therapy. Bracing for scoliosis. Regular monitoring. Pain management. Adaptive mobility devices	Decompression (C1 laminectomy) and OC fusion. Deformity correction
Kniest dysplasia (1:1000000)	AAI, OH, scoliosis	Physical therapy. Bracing for scoliosis. Regular monitoring. Pain management. Adaptive mobility devices	Decompression (C1 laminectomy) and OC fusion. Deformity correction
Diastrophic dysplasia (1:500000)	Cervical kyphosis, kyphoscoliosis	Early orthotic management. Regular monitoring for curve progression. Physical therapy. Pain management	Anterior/posterior correction for severe curves or progressive deformities. Spinal fusion if necessary
Mucopolysaccharidoses (all forms: 1:25000, I: 1:100000, IV: 1:200000-1:300000)	Craniovertebral junction stenosis, Thoracolumbar kyphosis, scoliosis	Regular monitoring and physical therapy. Management of symptoms and pain. Occupational therapy. Supportive care	Deformity correction. Decompression if necessary
Osteogenesis imperfecta (all forms: 1:10000-1:20000)	Spinal deformities (kyphosis, scoliosis)	Regular spinal evaluations. Bracing and physical therapy. Bisphosphonates for bone strength. Pain management	Surgery for severe curves or spinal instability. Spinal fusion in progressive cases

AAI: Atlantoaxial instability; OC: Occipitocervical; OH: Odontoid hypoplasia.