GUIDELINES

Please, choose a diagnosis from the list or feel free to suggest another rare syndrome

(based on genetic defects and affecting skeletal elements):

Congenital abnormalities of the skeleton

• Craniosynostosis: Acrocephaly, Microcephaly, etc.

• Amelia, Micromelia, Phocomelia

• Clubfoot

• Klippel-Feil syndrome

• Synostoses of extremities

Skeletal dysplasias

• Achondroplasia

• Cleidocranial dysostosis

• Gigantism

• Hypophosphatasia (HPP)

• Infantile cortical hyperostosis (Caffey disease)

• Melorheostosis

• Metaphyseal Dysplasia (Pyle disease)

• Mucopolysaccharidosis (Hurler Syndrome, Hunter Syndrome, Morquio syndrome)

• Multifocal eosinophilic granuloma (Hand-Schüller-Christian disease)

• Multiple osteochondromas

• Osteogenesis imperfecta Type I-IV

• Osteopathia striata

• Osteopetrosis

• Osteopoikilosis

• Progressive diaphyseal dysplasia (Camurati-Engelmann disease)

• Pycnodysostosis

Other disorders

• Trisomy 21 (Down syndrome)