Genetic diseases and dystrophic syndromes

11q-Syndrome
13q-Syndrome
18p-Syndrome
Aarskog Syndrome
Aase-Smith Syndrome
Achondroplasia
Acrodysostosis
Adams-Oliver Syndrome
Amelogenesis Imperfecta
Amniotic Bands
Anencephaly
Angelman Syndrome
Anodontia
Antley-Bixler Syndrome
Apert Syndrome
Arthrogryposis Multiplex Congenita
Asphyxiating Thoracic Dystrophy
Beckwith-Wiedemann Syndrome
Bloom Syndrome
Blue Rubber Bled Nevus
Carpenter Syndrome
Cerebro-Costo-Mandibular Syndrome
CHARGE Association
Cleft Lip And Cleft Palate
Clubfoot

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Cockayne Syndrome
Coffin-Lowry Syndrome
Coffin-Siris Syndrome
Conradi-Hünermann Syndrome
Cornelia De Lange Syndrome
Craniometaphyseal
Chri Du Chat Syndrome
Crouzon Disease
Cystic Hygroma
Dentin Dysplasia, Coronal
Dentin Dysplasia, Radicular
Dentinogenersis Imperfecta, Type III
Diastrophic Dysplasia
DiGeorge Syndrome
Down Syndrome
Dubowitz Syndrome
Dysplasia Epiphysealis Hemimelica
Engelmann Disease
Fairbank Disease
Fetal Alcohol Syndrome
Fragile X Syndrome
Fraser Syndrome
Freeman-Sheldon Syndrome
Goldenhar Syndrome
Gordon Syndrome
Gottron Syndrome
Greig Cephalopolysyndactyly Syndrome Hellermann-Streif Syndrome
Holt-Oram Syndrome
Hutchinson-Gilford Syndrome
Hypochondroplasia

Imperforate Anus
Ivemark Syndrome
Jarcho-Levin Syndrome
Kartagener Syndrome
Klinefelter Syndrome
Klippel-Trenaunay Syndrome
Larsen Syndrome
Laurence-Moon-Biedl Syndrome
Leprechaunism
Macroglossia
Maffucci Syndrome
Malignat Hyperthermia
Marfan Syndrome
Meckel Syndrome
Melnick-Needles Syndrome
Metaphyseal Chrondrodysplasia, McKusick Type
Moebius Syndrome
Neurofibromatosis
Noonan Syndrome
Oral-Facial-Digital Syndrome
Osteogenesis Imperfecta
Osteopetrosis
Pallister-Killian Syndrome
Parry-Romberg Syndrome
Pfeiffer Syndrome
Pierre Robin Syndrome
Poland Syndrome
Prader-Willi Syndrome
Proteus Syndrome
Roberts Syndrome
Robinow Syndrome
Rubinstein-Taybi Syndrome
Russell-Silver Syndrome
Saethre-Chotzen Syndrome
Seckel Syndrome
Septo-Optic Dysolasia
Sirenomelia Sequence
Smith-Lemli-Optiz Syndrome
Sotos Syndrome
Split-Hand Deformity
Spondyloepiphyseal Dysplasia tarda
Stickler Syndrome
Sturge-Weber Syndrome
Thrombocytopenia-Absent Radius Syndrome
Tooth and Nail Syndrome
Treacher Collins Syndrome
Trichodentoosseous Syndrome
Trichorhinophalangeal Syndrome
Triploid Syndrome
Trisomy
Trisomy 13 Syndrome
Trisomy 18 Syndrome
VACTERL Association
von Hippel-Lindau Syndrome
Waardenburg Syndrome
Werner Syndrome
Williams Syndrome
Wolf-Hirschhorn Syndrome
Wyburn-Mason Syndrome