Smith's Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders of unknown cause. This esteemed medical referencebook provides you with complete and authoritative, yet accessible guidance to help accurately diagnose these human disorders, establish prognoses, and provide appropriate management and genetic counseling.

• Recognize the visual signs of each environmental and genetic abnormality by consulting more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones.
• Find all the answers you need about normal and abnormal morphogenesis, minor anomalies and their relevance, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of human malformation syndromes.

• Efficiently identify genetic disorders in your patients with the inclusion of nearly 20 recently recognized entities/syndromes, as well as new chapters on Microdeletions and Microduplication Syndromes.
• Available digitally for the first time! You can now access Smith’s as an eBook or online at Expert Consult.

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
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 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