• Acrodysostosis

• Acromegaly

• Alagille syndrome

• Anderson syndrome

• Angelman syndrome

• Ankylosis of teeth/clinodactyly

• Antley-Bixler syndrome

• Apert syndrome

• Beckwith-Wiedemann syndrome

• Binder syndrome

• Chromosome deletion syndromes (1p-,13q-,17p-,4p-,16q-)

• Cleidocranial dysplasia

• Cockayne syndrome

• Coffin-Lowry syndrome

• Craniometaphyseal dysplasia

• Crouzon syndrome

• Diaphyseal dysplasia (Camurati-Engelmann)

• Endosteal hyperostosis (van Buchem, Worth)

• Epidermolysis bullosa with mental retardation

• Fetal alcohol syndrome

• Fragile X syndrome

• Fryns syndrome

• Geroderma osteodysplastica hereditaria

• Gomez-Lopez-Hernandez syndrome

• Hajdu-Cheney syndrome

• Hemihypertrophy

• Klinefelter syndrome

• LEOPARD syndrome

• Mandibular prognathism, isolated

• Mental retardation/obesity/mandibular prognathism/eye and skin abnormalities

• Microcephaly/microphthalmia/ectrodactyly of lower limbs/prognathism

• Mucolipidosis III

• Mucopolysaccharidosis, IS

• Myhre syndrome

• Myotonic dystrophy

• Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

• Opitz syndrome

• Osteoglophonic dysplasia

• Osteosclerosis, Stanescu type

• Pfeiffer syndrome

• Rieger syndrome

• Saethre-Chotzen syndrome

• Sclerosteosis

• Sotos syndrome

• Turner syndrome

• Williams syndrome

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