Smith's Recognizable Patterns of Human Malformation

Aarskog Syndrome Robinow Syndrome Opitz G/BBB Syndrome Floating-Harbor Syndrome E. Senile-Like Appearance Progeria Syndrome Wiedemann-Rautenstrauch Syndrome Werner Syndrome Cockayne Syndrome Rothmund-Thomson Syndrome

F. Early Overgrowth with Associated Defects Fragile X Syndrome Sotos Syndrome Weaver Syndrome Marshall-Smith Syndrome Beckwith-Wiedemann Syndrome Simpson-Golabi-Behmel Syndrome G. Unusual Brain and/or Neuromuscular Findings With Associated Defects Amyoplasia Congenita Disruptive Sequence Distal Arthrogryposis Syndrome, Type 1 Pena-Shokeir Phenotype Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome Lethal Multiple Pterygium Syndrome Neu-Laxova Syndrome Restrictive Dermopathy Meckel-Gruber Syndrome Pallister-Hall Syndrome

Gómez-López-Hernández Syndrome X-Linked Hydrocephalus Spectrum Hydrolethalus Syndrome Walker-Warburg Syndrome Miller-Dieker Syndrome

Nablus Mask-Like Facial Syndrome Smith-Magenis Syndrome Ataxia-Telangiectasia Syndrome Menkes Syndrome Pitt-Hopkins Syndrome Angelman Syndrome Prader-Willi Syndrome Cohen Syndrome Killian/Teschler-Nicola Syndrome 1p36 Deletion Syndrome Fryns Syndrome

Matthew-Wood Syndrome Zellweger Syndrome Freeman-Sheldon Syndrome Myotonic Dystrophy Syndrome Schwartz-Jampel Syndrome Marden-Walker Syndrome Schinzel-Giedion Syndrome Acrocallosal Syndrome 3C Syndrome Hecht Syndrome H. Facial Defects As Major Feature Moebius Sequence Blepharophimosis-Ptosis-Epicanthus Inversus Synrome Robin Sequence Cleft Lip Sequence Van Der Woude Syndrome Frontonasal Dysplasia Sequence Fraser Syndrome Melnick-Fraser Syndrome Branchio-Oculo-Facial Syndrome

Donnai-Barrow Syndrome CHARGE Syndrome Waardenburg Syndrome Treacher Collins Syndrome

Mandibulofacial Dysostosis with Microcephaly Marshall Syndrome Cervico-Oculo-Acoustic Syndrome I. Facial-Limb Defects as Major Feature Miller Syndrome Nager Syndrome Townes-Brocks Syndrome

Laurin-Sandrow Syndrome Oral-Facial-Digital Syndrome Mohr Syndrome 22q11.2 Microdeletion Syndrome Oculodentodigital Syndrome Lenz Microphthalmia Syndrome Oto-Palato-Digital Syndrome, Type I Oto-Palato-Digital Syndrome, Type II Coffin-Lowry Syndrome X-Linked ?-Thalassemia/Mental Retardation Syndrome FG Syndrome Stickler Syndrome Catel-Manzke Syndrome Langer-Giedion Syndrome Tricho-Rhino-Phalangeal Syndrome, Type I Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Hay-Wells Syndrome of Ectodermal Dysplasia Roberts Syndrome J. Limb Defect as Major Feature Poland Sequence Ulnar-Mammary Syndrome Popliteal Pterygium Syndrome Escobar Syndrome CHILD Syndrome Femoral Hypoplasia-Unusual Facies Syndrome Tibial Aplasia-Ectrodactyly Syndrome Adams-Oliver Syndrome Holt-Oram Syndrome Levy-Hollister Syndrome

Okihiro Syndrome Fanconi Pancytopenia Syndrome Radial Aplasia-Thrombocytopenia Syndrome Aase Syndrome K. Osteochondrodysplasias Achondrogenesis, Types IA And IB Type II Achondrogenesis-Hypochondrogenesis Fibrochondrogenesis Atelosteogenesis, Type I

Boomerang Dysplasia Short Rib-Polydactyly Syndromes Thanatophoric Dysplasia Jeune Thoracic Dystrophy Campomelic Dysplasia Achondroplasia Hypochondroplasia Pseudoachondroplasia Acromesomelic Dysplasia Spondyloepiphyseal Dysplasia Congenita Kniest Dysplasia Dyggve-Melchior-Clausen Syndrome

Smith-McCort Dysplasia Spondylometaphyseal Dysplasia, Kozlowski Type Metatropic Dysplasia Geleophysic Dysplasia Chondroectodermal Dysplasia (Ellis-van Creveld Syndrome) Diastrophic Dysplasia X-Linked Recessive Spondyloepiphyseal Dysplasia Tarda Multiple Epiphyseal Dysplasia Metaphyseal Dysplasia, Schmid Type Metaphyseal Dysplasia, McKusick Type Chondrodysplasia Punctata, X-Linked Dominant Type Autosomal Recessive Chondrodysplasia Punctata Hypophosphatasia Hajdu-Cheney Syndrome Craniometaphyseal Dysplasia Sensenbrenner Syndrome

Frontometaphyseal Dysplasia L. Osteochondrodysplasia with Osteopetrosis Osteopetrosis: Autosomal Recessive-Lethal Lenz-Majewski Hyperostosis Syndrome Pyknodysostosis Cleidocranial Dysostosis M. Craniosynostosis Syndromes Saethre-Chotzen Syndrome Pfeiffer Syndrome Apert Syndrome Crouzon Syndrome FGFR3- Associated Coronal Synostosis Syndrome

Curry-Jones Syndrome Craniofrontonasal Dysplasia Carpenter Syndrome Greig Cephalopolysyndactyly Syndrome Antley-Bixler Syndrome Baller-Gerold Syndrome N. Other Skeletal Dysplasias Multiple Synostosis Syndrome Spondylocarpotarsal Synostosis Syndrome Larsen Syndrome Multiple Exostoses Syndrome Nail-Patella Syndrome Meier-Gorlin Syndrome

Cantú Syndrome Leri-Weill Dyschondrosteosis Acrodysostosis Albright Hereditary Osteodystrophy

Yunis-Varón Syndrome

Desbuquois Syndrome O. Storage Disorders Leroy I-Cell Syndrome Mucopolysaccharidosis I H, I H/S, I S Hunter Syndrome Sanfilippo Syndrome Morquio Syndrome Mucopolysaccharidosis VII P. Connective Tissue Disorders Marfan Syndrome Beals Syndrome Shprintzen-Goldberg Syndrome Ehlers-Danlos Syndrome

Vascular Ehlers-Danlos Syndrome (EDS IV)

Loeys-Dietz Syndrome Osteogenesis Imperfecta Syndrome, Type I Osteogenesis Imperfecta Syndrome, Type II Fibrodysplasia Ossificans Progressiva Syndrome Q. Hamartoses Sturge-Weber Sequence Neurocutaneous Melanosis Sequence Linear Sebaceous Nevus Sequence Incontinentia Pigmenti Syndrome Hypomelanosis of Ito Tuberous Sclerosis Syndrome Neurofibromatosis Syndrome McCune-Albright Syndrome Klippel-Trenaunay Syndrome

Macrocephaly-Capillary Malformation Syndrome Proteus Syndrome Encephalocraniocutaneous Lipomatosis Maffucci Syndrome Peutz-Jeghers Syndrome Bannayan-Riley-Ruvalcaba Syndrome Hereditary Hemorragic Telangiectasia Multiple Endocrine Neoplasia, Type 2B Gorlin Syndrome Multiple Lentigines Syndrome Goltz Syndrome Microphthalmia-Linear Skin Defects Syndrome R. Ectodermal Dysplasias Hypohidrotic Ectodermal Dysplasia Rapp-Hodgkin Ectodermal Dysplasia Tricho-Dento-Osseous Syndrome Clouston Syndrome

Cranioectodermal Dysplasia GAPO Syndrome Pachyonychia Congenita Syndrome Xeroderma Pigmentosa Syndrome Senter-KID Syndrome S. Environmental Agents Fetal Alcohol Syndrome Fetal Hydantoin Syndrome Fetal Valproate Syndrome Fetal Warfarin Syndrome Fetal Aminopterin/Methotrexate Syndrome Retinoic Acid Embryopathy

Methimazole/Carbimazole Embryopathy

Mycophenolate Mofetil Embryopathy Fetal Varicella Syndrome Hyperthermia-Induced Spectrum of Defects T. Miscellaneous Syndromes Coffin-Siris Syndrome Börjeson-Forssman-Lehmann Syndrome Alagille Syndrome Melnick-Needles Syndrome Bardet-Biedl Syndrome Axenfeld-Rieger Syndrome Rieger Syndrome Peters' -Plus Syndrome Toriello-Carey Syndrome Finlay-Marks Syndrome

Mowat-Wilson Syndrome Cerebro-Costo-Mandibular Syndrome Jarcho-Levin Syndrome Mandibuloacral Dysplasia Berardinelli-Seip Congenital Lipodystrophy Syndrome Distichiasis-Lymphedema Syndrome

Vici Syndrome U. Miscellaneous Sequences Laterality Sequences Holoprosencephaly Sequence Meningomyelocele, Anencephaly, Iniencephaly Sequences Occult Spinal Dysraphism Sequence Septo-Optic Dysplasia Sequence

Klippel-Feil Sequence Early Urethral Obstruction Sequence Exstrophy of Bladder Sequence Exstrophy of Cloaca Sequence Urorectal Septum Malformation Sequence Oligohydramnios Sequence Sirenomelia Sequence Caudal Dysplasia Sequence Amnion Rupture Sequence Limb-Body Wall Complex V. Spectra Of Defects Oculo-Auriculo-Vertebral Spectrum Oromandibular-Limb Hypogenesis Spectrum Congenital Microgastria-Limb Reduction Complex Sternal Malformation-Vascular Dysplasia Spectrum Monozygotic Twinning And Structural Defects- General W. Miscellaneous Associations VATER Association MURCS Association

2. Morphogenesis and Dysmorphogenesis

3. Genetics, Genetic Counseling, and Prevention

4. Minor Anomalies: Clues to More Serious Problems and to the Recognition of Malformation Syndromes

5. Normal Standards

Appendix I

Pattern of Malformation Differential Diagnosis by Anomalies