Smith's Recognizable Patterns of Human Malformation

Introduction

Dysmorphology Approach and Classification

1. Recognizable Patterns of Malformation

A. Chromosomal Abnormality Syndromes

Identifiable on Routine KaryotypeDown SyndromeTrisomy 18 SyndromeTrisomy 13 SyndromeTrisomy 8 SyndromeTrisomy 9 Mosaic SyndromeTriploidy Syndrome and Diploid/Triploid Mixoploidy SyndromeDeletion 3p SyndromeDuplication 3q SyndromeDeletion 4p SyndromeDeletion 4q SyndromeDeletion 5p SyndromeDeletion 9p Syndrome

Duplication 9p SyndromeDuplication 10q SyndromeAniridia–Wilms Tumor AssociationDeletion 11q SyndromeDeletion 13q SyndromeDuplication 15q SyndromeDeletion 18p SyndromeDeletion 18q SyndromeCat-Eye SyndromeXYY SyndromeXXY Syndrome, Klinefelter SyndromeXXXY and XXXXY SyndromesXXX and XXXX SyndromesXXXXX Syndrome45X 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 SyndromeRubinstein-Taybi SyndromeRussell-Silver SyndromeSHORT Syndrome3-M SyndromeMulibrey Nanism SyndromeDubowitz SyndromeBloom SyndromeJohanson-Blizzard SyndromeMicrocephalic Primordial Dwarfing SyndromesHallermann-Streiff Syndrome

D. Moderate Short Stature, Facial, +/- GenitalSmith-Lemli-Opitz SyndromeKabuki SyndromeWilliams SyndromeNoonan SyndromeCostello SyndromeCardio-Facio-Cutaneous SyndromeAarskog SyndromeRobinow SyndromeOpitz G/BBB SyndromeFloating-Harbor SyndromeE. Senile-Like AppearanceProgeria SyndromeWiedemann-Rautenstrauch SyndromeWerner SyndromeCockayne SyndromeRothmund-Thomson Syndrome

F. Early Overgrowth with Associated DefectsFragile X SyndromeSotos SyndromeWeaver SyndromeMarshall-Smith SyndromeBeckwith-Wiedemann SyndromeSimpson-Golabi-Behmel SyndromeG. Unusual Brain and/or Neuromuscular Findings With Associated DefectsAmyoplasia Congenita Disruptive SequenceDistal Arthrogryposis Syndrome, Type 1Pena-Shokeir PhenotypeCerebro-Oculo-Facio-Skeletal (COFS) SyndromeLethal Multiple Pterygium SyndromeNeu-Laxova SyndromeRestrictive DermopathyMeckel-Gruber SyndromePallister-Hall Syndrome

Gómez-López-Hernández SyndromeX-Linked Hydrocephalus SpectrumHydrolethalus SyndromeWalker-Warburg SyndromeMiller-Dieker Syndrome

Nablus Mask-Like Facial SyndromeSmith-Magenis SyndromeAtaxia-Telangiectasia SyndromeMenkes SyndromePitt-Hopkins SyndromeAngelman SyndromePrader-Willi SyndromeCohen SyndromeKillian/Teschler-Nicola Syndrome1p36 Deletion SyndromeFryns Syndrome

Matthew-Wood SyndromeZellweger SyndromeFreeman-Sheldon SyndromeMyotonic Dystrophy SyndromeSchwartz-Jampel SyndromeMarden-Walker SyndromeSchinzel-Giedion SyndromeAcrocallosal Syndrome3C SyndromeHecht SyndromeH. Facial Defects As Major FeatureMoebius SequenceBlepharophimosis-Ptosis-Epicanthus Inversus SynromeRobin SequenceCleft Lip SequenceVan Der Woude SyndromeFrontonasal Dysplasia SequenceFraser SyndromeMelnick-Fraser SyndromeBranchio-Oculo-Facial Syndrome

Donnai-Barrow SyndromeCHARGE SyndromeWaardenburg Syndrome Treacher Collins Syndrome

Mandibulofacial Dysostosis with MicrocephalyMarshall SyndromeCervico-Oculo-Acoustic SyndromeI. Facial-Limb Defects as Major FeatureMiller SyndromeNager SyndromeTownes-Brocks Syndrome

Laurin-Sandrow SyndromeOral-Facial-Digital SyndromeMohr Syndrome22q11.2 Microdeletion SyndromeOculodentodigital SyndromeLenz Microphthalmia SyndromeOto-Palato-Digital Syndrome, Type IOto-Palato-Digital Syndrome, Type IICoffin-Lowry SyndromeX-Linked ɑ-Thalassemia/Mental Retardation SyndromeFG SyndromeStickler SyndromeCatel-Manzke SyndromeLanger-Giedion SyndromeTricho-Rhino-Phalangeal Syndrome, Type IEctrodactyly–Ectodermal Dysplasia–Clefting SyndromeHay-Wells Syndrome of Ectodermal DysplasiaRoberts SyndromeJ. Limb Defect as Major FeaturePoland SequenceUlnar-Mammary SyndromePopliteal Pterygium SyndromeEscobar SyndromeCHILD SyndromeFemoral Hypoplasia-Unusual Facies SyndromeTibial Aplasia-Ectrodactyly SyndromeAdams-Oliver SyndromeHolt-Oram SyndromeLevy-Hollister Syndrome

Okihiro SyndromeFanconi Pancytopenia SyndromeRadial Aplasia–Thrombocytopenia SyndromeAase SyndromeK. OsteochondrodysplasiasAchondrogenesis, Types IA And IBType II Achondrogenesis-HypochondrogenesisFibrochondrogenesisAtelosteogenesis, Type I

Boomerang DysplasiaShort Rib–Polydactyly SyndromesThanatophoric DysplasiaJeune Thoracic DystrophyCampomelic DysplasiaAchondroplasiaHypochondroplasiaPseudoachondroplasiaAcromesomelic DysplasiaSpondyloepiphyseal Dysplasia CongenitaKniest DysplasiaDyggve-Melchior-Clausen Syndrome

Smith-McCort DysplasiaSpondylometaphyseal Dysplasia, Kozlowski TypeMetatropic DysplasiaGeleophysic DysplasiaChondroectodermal Dysplasia (Ellis-van Creveld Syndrome)Diastrophic DysplasiaX-Linked Recessive Spondyloepiphyseal Dysplasia TardaMultiple Epiphyseal DysplasiaMetaphyseal Dysplasia, Schmid TypeMetaphyseal Dysplasia, McKusick TypeChondrodysplasia Punctata, X-Linked Dominant TypeAutosomal Recessive Chondrodysplasia PunctataHypophosphatasiaHajdu-Cheney SyndromeCraniometaphyseal DysplasiaSensenbrenner Syndrome

Frontometaphyseal DysplasiaL. Osteochondrodysplasia with OsteopetrosisOsteopetrosis: Autosomal Recessive—LethalLenz-Majewski Hyperostosis SyndromePyknodysostosisCleidocranial DysostosisM. Craniosynostosis SyndromesSaethre-Chotzen SyndromePfeiffer SyndromeApert SyndromeCrouzon SyndromeFGFR3- Associated Coronal Synostosis Syndrome

Curry-Jones SyndromeCraniofrontonasal DysplasiaCarpenter SyndromeGreig Cephalopolysyndactyly SyndromeAntley-Bixler SyndromeBaller-Gerold SyndromeN. Other Skeletal DysplasiasMultiple Synostosis SyndromeSpondylocarpotarsal Synostosis SyndromeLarsen SyndromeMultiple Exostoses SyndromeNail-Patella SyndromeMeier-Gorlin Syndrome

Cantú Syndrome Leri-Weill DyschondrosteosisAcrodysostosisAlbright Hereditary Osteodystrophy

Yunis-Varón Syndrome

Desbuquois SyndromeO. Storage DisordersLeroy I-Cell SyndromeMucopolysaccharidosis I H, I H/S, I SHunter SyndromeSanfilippo SyndromeMorquio SyndromeMucopolysaccharidosis VII P. Connective Tissue DisordersMarfan SyndromeBeals SyndromeShprintzen-Goldberg SyndromeEhlers-Danlos Syndrome

Vascular Ehlers-Danlos Syndrome (EDS IV)

Loeys-Dietz SyndromeOsteogenesis Imperfecta Syndrome, Type IOsteogenesis Imperfecta Syndrome, Type IIFibrodysplasia Ossificans Progressiva SyndromeQ. HamartosesSturge-Weber SequenceNeurocutaneous Melanosis SequenceLinear Sebaceous Nevus SequenceIncontinentia Pigmenti SyndromeHypomelanosis of ItoTuberous Sclerosis SyndromeNeurofibromatosis SyndromeMcCune-Albright SyndromeKlippel-Trenaunay Syndrome

Macrocephaly-Capillary Malformation SyndromeProteus SyndromeEncephalocraniocutaneous LipomatosisMaffucci SyndromePeutz-Jeghers SyndromeBannayan-Riley-Ruvalcaba SyndromeHereditary Hemorragic TelangiectasiaMultiple Endocrine Neoplasia, Type 2BGorlin SyndromeMultiple Lentigines SyndromeGoltz SyndromeMicrophthalmia–Linear Skin Defects SyndromeR. Ectodermal DysplasiasHypohidrotic Ectodermal Dysplasia Rapp-Hodgkin Ectodermal Dysplasia Tricho-Dento-Osseous SyndromeClouston Syndrome

Cranioectodermal DysplasiaGAPO SyndromePachyonychia Congenita SyndromeXeroderma Pigmentosa SyndromeSenter-KID SyndromeS. Environmental AgentsFetal Alcohol SyndromeFetal Hydantoin SyndromeFetal Valproate SyndromeFetal Warfarin SyndromeFetal Aminopterin/Methotrexate SyndromeRetinoic Acid Embryopathy

Methimazole/Carbimazole Embryopathy

Mycophenolate Mofetil EmbryopathyFetal Varicella SyndromeHyperthermia-Induced Spectrum of DefectsT. Miscellaneous SyndromesCoffin-Siris SyndromeBörjeson-Forssman-Lehmann SyndromeAlagille SyndromeMelnick-Needles SyndromeBardet-Biedl SyndromeAxenfeld-Rieger SyndromeRieger SyndromePeters' -Plus SyndromeToriello-Carey SyndromeFinlay-Marks Syndrome

Mowat-Wilson SyndromeCerebro-Costo-Mandibular SyndromeJarcho-Levin SyndromeMandibuloacral DysplasiaBerardinelli-Seip Congenital Lipodystrophy SyndromeDistichiasis-Lymphedema Syndrome

Vici SyndromeU. Miscellaneous SequencesLaterality SequencesHoloprosencephaly SequenceMeningomyelocele, Anencephaly, Iniencephaly SequencesOccult Spinal Dysraphism SequenceSepto-Optic Dysplasia Sequence

Klippel-Feil SequenceEarly Urethral Obstruction SequenceExstrophy of Bladder SequenceExstrophy of Cloaca SequenceUrorectal Septum Malformation SequenceOligohydramnios SequenceSirenomelia SequenceCaudal Dysplasia SequenceAmnion Rupture SequenceLimb–Body Wall ComplexV. Spectra Of DefectsOculo-Auriculo-Vertebral SpectrumOromandibular-Limb Hypogenesis SpectrumCongenital Microgastria–Limb Reduction ComplexSternal Malformation–Vascular Dysplasia SpectrumMonozygotic Twinning And Structural Defects— GeneralW. Miscellaneous AssociationsVATER AssociationMURCS 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