Clinical features of selected causes of syndromic scoliosis

Syndromic scoliosis	Clinical features
Cleidocranial dysplasia	Partial or complete absence of the clavicles, short stature, brachycephaly
Ehlers-Danlos syndrome	Skin hyperextensibility, joint hypermobility, joint dislocations or subluxations
Familial dysautonomia	Progressive sensorimotor neuropathy with autonomic dysfunction (eg, orthostatic hypotension, excessive salivation, decreased tearing, temperature dysregulation)
Homocystinuria	Nearsightedness, muscle weakness, paresthesias
Juvenile Paget disease (idiopathic hyperphosphatasia)	Macrocephaly, short stature, bowed extremities, muscle weakness
Klippel-Feil syndrome	Short neck, low posterior hairline, limited neck motion; may coexist with Sprengel deformity
Marfan syndrome	Long limbs, arachnodactyly, increased arm span to height ratio, ectopia lentis
Mucopolysaccharidoses	Coarse facial features, hepatosplenomegaly, cardiac abnormalities
Neurofibromatosis	Café-au-lait macules, axillary freckling, Lisch nodules
Osteogenesis imperfecta	Excess or atypical fractures, short stature, laxity of the skin and ligaments
Sprengel deformity	Elevated scapula; may coexist with Klippel-Feil syndrome

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