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 VII 1. 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 Börjeson-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.