Table of Contents

Introduction

Dysmorphology Approach and Classification

1. Recognizable Patterns of Malformation

A. Chromosomal Abnormality Syndromes Identifiable on Routine Karyotype 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 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. Deletion, Duplication and Microduplication Syndromes Identifiable Using Molecular Technology

1p36 Deletion Syndrome

1Q41Q42 Microdeletion Syndrome

1Q43Q44 Microdeletion Syndrome

2q31.1 Microdeletion Syndrome

2q37 Deletion Syndrome

3q29 Microdeletion Syndrome

9q34.3 Subtelomeric Deletion Syndrome

15q24 Microdeletion Syndrome

16p11.2p12.2 Microdeletion Syndrome

17q21 Microdeletion Syndrome

22q13 Deletion Syndrome

Xq Distal Duplication or Disomy

C. 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 Microcephalic Primordial Dwarfing Syndromes Hallermann-Streiff Syndrome

D. Moderate Short Stature, Facial, +/- Genital Smith-Lemli-Opitz Syndrome Kabuki Syndrome Williams Syndrome Noonan Syndrome Costello Syndrome Cardio-Facio-Cutaneous Syndrome 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 ɑ-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

Pattern of Malformation Differential Diagnosis by Anomalies