Smith's Recognizable Patterns of Human Malformation

1. Recognizable Patterns of Malformation A. Chromosomal Abnormality Syndromes Down Syndrome Trisomy 18 Syndrome Trisomy 13 Syndrome Trisomy 8 Syndrome Trisomy 9 Mosaic Syndrome Triploidy Syndrome and Diploid/Triploid Mixoploidy Syndrome Deletion 3p Syndrome Duplication 3q Syndrome Deletion 4p Syndrome Deletion 4q Syndrome Deletion 5p Syndrome Deletion 9p Syndrome Duplication 10q Syndrome Aniridia-Wilms Tumor Association Deletion 11q Syndrome Deletion 13q Syndrome Duplication 15q Syndrome Deletion 18p Syndrome Deletion 18q Syndrome Cat-Eye Syndrome XYY Syndrome XXY Syndrome, Klinefelter Syndrome XXXY and XXXXY Syndromes XXX and XXXX Syndromes XXXXX Syndrome 45X Syndrome B. Very Small Stature, Not Skeletal Dysplasia Brachmann-De Lange Syndrome Rubinstein-Taybi Syndrome Russell-Silver Syndrome Short Syndrome 3-M Syndrome Mulibrey Nanism Syndrome Dubowitz Syndrome Bloom Syndrome Johanson-Blizzard Syndrome Seckel Syndrome Hallermann-Streiff Syndrome C. Moderate Short Stature, Facial, +/- Genital Smith-Lemli-Opitz Syndrome Kabuki Syndrome Williams Syndrome Noonan Syndrome Costello Syndrome Cardio-Facio-Cutaneous (CFC) Syndrome Aarskog Syndrome Robinow Syndrome Opitz G/BBB Syndrome Floating-Harbor Syndrome D. Senile-Like Appearance Progeria Syndrome Wiedemann-Rautenstrauch Syndrome Werner Syndrome Cockayne Syndrome Rothmund-Thomson Syndrome E. Early Overgrowth with Associated Defects Fragile X Syndrome Sotos Syndrome Weaver Syndrome Marshall-Smith Syndrome Beckwith-Wiedemann Syndrome Simpson-Golabi-Behmel Syndrome F. 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 X-Linked Hydrocephalus Spectrum Hydrolethalus Syndrome Walker-Warburg Syndrome Miller-Dieker Syndrome Smith-Magenis Syndrome Ataxia-Telangiectasia Syndrome Menkes Syndrome 22q13 Deletion Syndrome Angelman Syndrome Prader-Willi Syndrome Cohen Syndrome Killian/Teschler-Nicola Syndrome 1p36 Deletion Syndrome Fryns Syndrome Zellweger Syndrome Freeman-Sheldon Syndrome Myotonic Dystrophy Syndrome Schwartz-Jampel Syndrome Marden-Walker Syndrome Schinzel-Giedion Syndrome Acrocallosal Syndrome 3C Syndrome Hecht Syndrome G. 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 Charge Syndrome Waardenburg Syndrome, Types I and II Treacher Collins Syndrome Marshall Syndrome Cervico-Oculo-Acoustic Syndrome H. Facial-Limb Defects as Major Feature Miller Syndrome Nager Syndrome Townes-Brocks Syndrome Oral-Facial-Digital Syndrome Mohr Syndrome Deletion 22q11.2 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 (ATR-X) 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 I. Limb Defect as Major Feature Grebe Syndrome 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 Fanconi Pancytopenia Syndrome Radial Aplasia-Thrombocytopenia Syndrome Aase Syndrome J. Osteochondrodysplasias Achondrogenesis, Types IA And IB Type II Achondrogenesis-Hypochondrogenesis Fibrochondrogenesis Atelosteogenesis, Type I Short Rib-Polydactyly Syndrome, Type I (Saldino- Noonan Type) Short Rib-Polydactyly Syndrome, Type II (Majewski Type) Thanatophoric Dysplasia Jeune Thoracic Dystrophy Campomelic Dysplasia Achondroplasia Hypochondroplasia Pseudoachondroplasia Acromesomelic Dysplasia Spondyloepiphyseal Dysplasia Congenita Kniest Dysplasia Dyggve-Melchior-Clausen Syndrome Spondylometaphyseal Dysplasia, Kozlowski Type Metatropic Dysplasia Geleophysic Dysplasia Chondroectodermal Dysplasia Diastrophic Dysplasia X-Linked Recessive Spondyloepiphyseal Dysplasia Tarda Multiple Epiphyseal Dysplasia Metaphyseal Dysplasia, Schmid Type Metaphyseal Dysplasia, Mckusick Type Metaphyseal Dysplasia, Jansen Type Shwachman-Diamond Syndrome Chondrodysplasia Punctata, X-Linked Dominant Type Autosomal Recessive Chondrodysplasia Punctata Hypophosphatasia Hajdu-Cheney Syndrome Craniometaphyseal Dysplasia Frontometaphyseal Dysplasia K. Osteochondrodysplasia with Osteopetrosis Osteopetrosis: Autosomal Recessive-Lethal Sclerosteosis Lenz-Majewski Hyperostosis Syndrome Pyknodysostosis Cleidocranial Dysostosis Yunis-Varon Syndrome L. Craniosynostosis Syndromes Saethre-Chotzen Syndrome Pfeiffer Syndrome Apert Syndrome Crouzon Syndrome FGFR3- Associated Coronal Synostosis Syndrome Craniofrontonasal Dysplasia Carpenter Syndrome Greig Cephalopolysyndactyly Syndrome Antley-Bixler Syndrome Baller-Gerold Syndrome M. Other Skeletal Dysplasias Multiple Synostosis Syndrome Spondylocarpotarsal Synostosis Syndrome Larsen Syndrome Multiple Exostoses Syndrome Nail-Patella Syndrome Meier-Gorlin Syndrome Leri-Weill Dyschondrosteosis Langer Mesomelic Dysplasia Acrodysostosis Albright Hereditary Osteodystrophy N. Storage Disorders Generalized Gangliosidosis Syndrome, Type I (Severe Infantile Type) Leroy I-Cell Syndrome Pseudo-Hurler Polydystrophy Syndrome Hurler Syndrome Scheie Syndrome Hurler-Scheie Syndrome Hunter Syndrome Sanfilippo Syndrome Morquio Syndrome Maroteaux-Lamy Mucopolysaccharidosis Syndrome (Mild, Moderate, and Severe Types) Mucopolysaccharidosis VII1. Recognizable Patterns of Malformation O. Connective Tissue Disorders Marfan Syndrome Beals Syndrome Shprintzen-Goldberg Syndrome Ehlers-Danlos Syndrome Osteogenesis Imperfecta Syndrome, Type I Osteogenesis Imperfecta Syndrome, Type II Fibrodysplasia Ossificans Progressiva Syndrome P. 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 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 Q. Ectodermal Dysplasias Hypohidrotic Ectodermal Dysplasia Syndrome Rapp-Hodgkin Ectodermal Dysplasia Syndrome Tricho-Dento-Osseous Syndrome Clouston Syndrome GAPO Syndrome Pachyonychia Congenita Syndrome Xeroderma Pigmentosa Syndrome Senter-Kid Syndrome R. Enviornmental Agents Fetal Alcohol Syndrome Fetal Hydantoin Syndrome Fetal Valproate Syndrome Fetal Warfarin Syndrome Fetal Aminopterin/Methotrexate Syndrome Retinoic Acid Embryopathy Fetal Varicella Syndrome Hyperthermia-Induced Spectrum of Defects S. Miscellaneous Syndromes Coffin-Siris Syndrome Borjeson-Forssman-Lehmann Syndrome Alagille Syndrome Melnick-Needles Syndrome Bardet-Biedl Syndrome Mckusick-Kaufman Syndrome Rieger Syndrome Peters' Plus Syndrome Toriello-Carey Syndrome Mowat-Wilson Syndrome Cerebro-Costo-Mandibular Syndrome Jarcho-Levin Syndrome Mandibuloacral Dysplasia Berardinelli Lipodystrophy Syndrome Distichiasis-Lymphedema Syndrome T. Miscellaneous Sequences Laterality Sequences Holoprosencephaly Sequence Meningomyelocele, Anencephaly, Iniencephaly Sequences Occult Spinal Dysraphism Sequence Septo-Optic Dysplasia Sequence Athyrotic Hypothyroidism Sequence DiGeorge 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 U. Spectra Of Defects Oculo-Auriculo-Vertebral Spectrum Oromandibular-Limb Hypogenesis Spectrum Congenital Microgastria-Limb Reduction Complex Sternal Malformation-Vascular Dysplasia Spectrum Monozygotic (MZ) Twinning And Structural Defects- General V. Miscellaneous Associations VATER Association MURCS Association 2. Approaches to Categorical Problems of Growth Deficiency, Mental Deficiency, Arthrogryposis, Ambiguous External Genitalia 3. Morphogenesis and Dysmorphogenesis 4. Genetics, Genetic Counseling, and Prevention 5. Minor Anomalies as Clues to More Serious Problems and Toward the Recognition of Malformation Syndromes 6. Normal Standards