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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