• Achard syndrome

• Arthrogryposis

• Carpenter syndrome

• Caudal regression syndrome

• Chromosome XXXXY syndrome

• Cleidocranial dysplasia

• Coffin-Lowry syndrome

• Dyschondrosteosis

• Dysplasia epiphysealis hemimelica

• Facial dysmorphism, cleft palate, hearing loss, and camptodactyly

• Frontometaphyseal dysplasia

• Fucosidosis

• Hemifacial hyperplasia with strabismus (Bencze syndrome)

• Hereditary multiple exostoses

• Hirsutism-skeletal dysplasia-mental retardation syndrome

• Holoprosencephaly, semilobar, with craniosynos-tosis (Genoa syndrome)

• Hypertrichotic osteochondrodysplasia (Cantu syndrome)

• Mandibulo-acral dysplasia

• Mannosidosis

• Marinesco-Sjogren syndrome

• Melnick-Needles syndrome (osteodysplasty)

• Mucopolysaccharidoses

• Mucolipidoses

• Multiple epiphyseal dysplasia with early-onset diabetes mellitus

• Muscular dystrophies

• Myositis ossificans progressiva

• Ophthalmo-mandibulo-melic dysplasia

• Osteopetrosis

• Oto-palato-digital syndrome, type II

• Pena-Shokeir syndrome

• Prader-Willi syndrome

• Pseudohypoparathyroidism

• Pyknodysostosis

• Schwartz-Jampel syndrome

• Spondyloepiphyseal dysplasia-joint laxity

• Spondyloepiphyseal dysplasia (Stanescu)

• Spondyloepiphyseal dysplasia tarda with mental retardation

• Stickler syndrome

• Turner syndrome

• Ulnar metaphyseal dysplasia syndrome (Rosenberg)

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