Genetic Syndromes

A Comprehensive Reference Guide
1. Auflage 2024
ISBN: 978-3-030-38378-7
Verlag: Springer

Buch, Englisch, 8970 Seiten, Format (B × H): 178 mm x 254 mm

Reihe: Genetic Syndromes

This comprehensive reference work covers the full range of congenital syndromes. The first section uses a general approach discussing broad topics such as worldwide prevalence and possible etiologies of congenital syndromes including genetics, epigenetics and environmental factors. As well as the most common inheritance patterns of congenital syndromes. The next part of the work is organised in sections based on system specified classification of congenital syndromes. The main characteristics of each syndrome are summarized, including background and history, other name, etiology (genetics, epigenetics, and environment), clinical presentation, diagnosis, treatment, follow-up and prognosis, and differential diagnosis.

Covering all known congenital syndromes and defining their characteristics, this book is the ultimate reference for clinicians, researchers, and students primary in the fields of genetics and pediatrics but also in other fields as it covers the syndromes of all systems. This book is particularly useful for clinicians in diagnostic and therapeutic approaches to patients. With its apposite and easy-to-use classification this reference work offers straight-forward access to each syndrome.

Zielgruppe

Research

Autoren/Hrsg.

Rezaei, Nima

Fachgebiete

• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Innere Medizin
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Humangenetik
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Pädiatrie, Neonatologie

Inhaltsverzeichnis

Genetics
Chromosomal defects

Single gene mutations

Autosomal dominant

Autosomal recessive

X-linked inheritance

Y-linked

Mitochondrial

Genomic imprinting

Multifactorial

Epigenetics

DNA methylation

Histone acetylation

Environmental

Infections

Toxins

Medications and Drugs

Radiation

Nutritional insufficiency




Section 2: Congenital Syndromes classification: system Specific
Normal feature syndromes

Chromosome XXX syndrome (super female)

de la Chapelle syndrome (XX male syndrome)

Auditory Auricular syndromes

Velocardiofacial Syndrome

Auricular-Auditory-Ophthalmic-Musculoskeletal syndromes

Hemifacial microsomia

Cardiovascular syndromes

Brugada syndrome

Long QT syndrome (LQTS)

Taussig–Bing syndrome

Cardiovascular-Gastrointestinal-Pulmonary syndromes<

Heterotaxia syndrome

Cardiovascular-Gastrointestinal-Renal syndromes

Alagille syndrome (Watson-Miller syndrome) (ICD-10: Q44.7)

Cardiovascular-Cutaneous-Musculoskeletal syndromes

Arterial tortuosity syndrome

Cardiovascular-Cutaneous-Ophthalmic-Pulmonary-Urogenital syndromes

LEOPARD syndrome

Cardiovascular-Craniofacial syndromes

Aortic arch anomaly-peculiar facies-mental retardation syndrome

Asymmetric crying facies (ACF) (Cayler cardiofacial syndrome, partial unilateral facial paresis)

Cardiofacial syndrome (Cayler syndrome)

Conotruncal anomaly face syndrome (CTAF)

Cardiovascular-Endocrine-Neurologic syndromes

Malouf syndrome

Cardiovascular-Hematologic-Neurologic syndromes

Skeletal and cardiac malformations-thrombocytopenia syndrome

Cardiovascular-Neurologic syndromes

Erondu–Cymet syndrome

Microcephaly-cardiomyopathy syndrome

Cardiovascular-Sensorineural syndromes

Jervell and Lange-Nielsen syndrome (JLNS)

Craniofacial syndromes

Ablepharon macrostomia syndrome

Hall syndrome 1

Hughes syndrome (Acromegaloid facial appearance (AFA) syndrome)

Keppen–Lubinsky syndrome

Opitz trigonocephaly syndrome (C syndrome)<

Pierre Robin syndrome (PRS)

Raine syndrome (RNS) (osteosclerotic bone dysplasia)

Craniofacial-Auricular-Auditory syndromes

Abruzzo–Erickson syndrome

Pierre Robin sequence (Weissenbacher–Zweymuller syndrome (WZS))

Craniofacial-Auriculoocularar syndromes

Branchio-oculo-facial (BOF) syndrome (BOFS)

Berry syndrome (mandibulofacial dysostosis (MFD))

Craniofacial-Cardiovascular syndromes

Ritscher-Schinzel syndrome

Craniofacial-Cardiovascular-Cutaneous- Musculoskeletal-Neurologic syndromes

Chromosome 9p deletion syndrome

Congenital hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome

Kabuki make-up syndrome (KMS) (Niikawa-Kuroki syndrome)

Craniofacial-Cardiovascular-Cutaneous- Musculoskeletal-Neurologic-Urogenital syndromes

Chromosome 14 trisomy syndrome

Craniofacial-Cardiovascular-Cutaneous-Neurologic syndromes

Golabi-Ito-Hall syndrome

Craniofacial-Cardiovascular-Gastrointestinal-Neurologic-Renal syndromes

German syndrome (fetal trimethadione syndrome)

Craniofacial-Cardiovascular-Musculoskeletal syndromes

Chromosome 5q duplication syndrome

Chromosome 6q deletion syndrome

Chromosome 12q duplication syndrome

Chromosome 12q duplication syndrome

Chromosome 15 trisomy

Ho–Kaufman–Mcalister syndrome

Osteopathia striata with cranial sclerosis (Fairbank disease, Voorhoeve syndrome)

Sonoda syndrome

Craniofacial-Cardiovascular-Musculoskeletal-Neurologic syndromes

Chromosome 8q deletion syndrome

Chromosome 9 trisomy syndrome

Chromosome 9q duplication syndrome

Chromosome 10q deletion syndrome

Chromosome 17p deletion syndrome

Chromosome 22 trisomy syndrome

Fetal hydantoin syndrome (FHS)

Hamel syndrome

Hunter-Fraser syndrome

Neurofaciodigitorenal (NFDR) syndrome

Noonan syndrome (Turner-like syndrome)

Pilotto syndrome

Shprintzen syndrome

Craniofacial-Cardiovascular-Musculoskeletal-Neurologic-Gastrointestinal syndromes

Chromosome 11q duplication syndrome (Jacobsen Syndrome)

Craniofacial-Cardiovascular-Musculoskeletal-Neurologic-Ocular syndromes

Chromosome 10p duplication syndrome

Ter Haar syndrome

Craniofacial-Cardiovascular-Musculoskeletal-Neurologic-Pulmonary-Renal syndromes

Chromosome 10q duplication syndrome

Chromosome 20p deletion syndrome

Craniofacial-Cardiovascular-Musculoskeletal-Neurologic-Renal syndromes

Chromosome 5p duplication syndrome

Chromosome 15q tetrasomy syndrome

Chromosome 19p duplication syndrome

Chromosome tetraploidy syndrome

Eastman-Bixler syndrome (Faciocardiorenal syndrome)

Craniofacial-Cardiovascular- Musculoskeletal-Neurologic- Urogenital syndromes

Chromosome 2q duplication syndrome

Chromosome 3q duplication syndrome

Chromosome 4q deletion syndrome

Chromosome 7p deletion syndrome

Chromosome 9p tetrasomy syndrome

Chromosome 10 ring syndrome

Chromosome 10p duplication/10q deletion syndrome

Chromosome 14q duplication syndrome

Chromosome 21 monosomy syndrome

Harrod syndrome

Craniofacial-Cardiovascular-Musculoskeletal-Urogenital syndromes

Chromosome 2 trisomy syndrome

Craniofacial- Cardiovascular-Neurologic syndromes

Cardiofaciocutaneous (CFC) syndrome

Chromosome 8p deletion syndrome

Chromosome 18q duplication syndrome

Chromosome 20q duplication syndrome

Williams syndrome (WMS, WS) (Beuren syndrome, Fanconi-Schlesinger syndrome)

Craniofacial- Cardiovascular-Neurologic-Auditory syndromes

Chromosome 6p deletion syndrome

Craniofacial- Cardiovascular-Neurologic-Gastrointestinal syndromes

Chromosome 9q duplication/Chromosome 9p deletion syndrome

Craniofacial- Cardiovascular-Neurologic-Gastrointestinal-Renal syndromes

Chromosome 18 trisomy (Edwards syndrome)

Craniofacial- Cardiovascular-Neurologic-Hematologic syndromes

Chromosome 8p deletion syndrome

Craniofacial- Cardiovascular-Neurologic-Hematologic-Pulmonary syndromes

Chromosome 21 trisomy syndrome

Craniofacial-Cardiovascular-Neurologic-Musculoskeletal-Ophthalmic-Urogenital syndromes

Chromosome 4q duplication syndrome

Chromosome 7q duplication syndrome

Craniofacial-Cardiovascular-Neurologic-Musculoskeletal-auriculoocular-Urogenital syndromes

Chromosome 8 recombinant syndrome

Craniofacial-Cardiovascular-Neurologic-Renal syndromes

Chromosome 4p deletion syndrome (Wolf-Hirschhorn syndrome (WHS))

Craniofacial-Cardiovascular-Neurologic-Ophthalmic-Urogenital-Auditory Syndromes

CHARGE (coloboma-heart disease-atresia of choanae-retarded mental development and growth-genital hypoplasia-ear abnormalities-deafness) association or syndrome

Craniofacial-Cardiovascular-Neurologic-Urogenital syndromes

Chromosome 13 trisomy syndrome (Bartholin-Patau syndrome)

Craniofacial-Cardiovascular-Renal-Urogenital syndromes

Potocki–Shaffer syndrome (PSS)

Craniofacial-Cutaneous-Endocrine-Ophthalmic syndromes

FACES syndrome

Craniofacial-Cutaneous-Gastrointestinalsyndromes

Laband syndrome

Craniofacial-Cutaneous-Musculoskeletal syndromes

Circumferential skin creases-psychomotor retardation syndrome

Cranio–lenticulo–sutural dysplasia (Boyadjiev-Jabs syndrome)

Zori–Stalker–Williams syndrome

Craniofacial-Cutaneous-Musculoskeletal-Urogenital syndromes

Dubowitz syndrome

Craniofacial-Cutaneous-Musculoskeletal-Neurologic syndromes

Coffin-Lowry syndrome (CLS) ( Coffin syndrome 2)

Craniofrontonasal syndrome (CNFS)

Craniotubular dysplasia-growth retardation-mental retardation-ectodermal dysplasia-loose skein syndrome

Hirsutism-skeletal dysplasia-mental retardation syndrome

Hypertrichosis-coarse face-brachydactyly-obesity-mental retardation syndrome

Lenz-Majewski-like syndrome (craniotubular dysplasia-growth retardation-mental retardation-ectodermal dysplasia-loose skein syndrome)

Lison syndrome

Macrocephaly-capillary malformation (M-CM)

Pollitt syndrome

Craniofacial-Cutaneous-Musculoskeletal-Neurologic-Ophthalmic syndromes

Conradi–Hünermann syndrome (X-linked dominant chondrodysplasia punctate)

Craniofacial-Cutaneous-Neurologic syndromes

Chromosome 8p duplication syndrome

Chromosome 17 ring syndrome

Growth retardation-ocular abnormalities-microcephaly-brachydactyly-oligophrenia (GOMBO) syndrome

SCARF (skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, facial abnormalities) syndrome

Trichodental dysplasia-microcephaly-mental retardation syndrome

Craniofacial-Cutaneous-Neurologic-Renal syndromes

Say syndrome 1

Craniofacial-Cutaneous-Neurologic-Musculoskeletal-Urogenital syndromes

Chromosome 4 ring syndrome

Craniofacial-Musculoskeletal syndromes

Acro–dermato–ungual–lacrimal–tooth syndrome

Adams–Oliver syndrome

Abducted thumbs syndrome (Christian syndrome 1)

Adducted thumb syndrome (Gareis-Mason syndrome)

Antley–Bixler syndrome

Apert syndrome

Aspartylglycosaminuria

Baller-Gerold syndrome (BGS)

Carpenter syndrome

Catel–Manzke syndrome

Chromosome 17q deletion syndrome

Escobar syndrome (Multiple pterygium syndrome)

Fairbank-Keats syndrome (osteoglophonic dysplasia)

Fanconi syndrome (SPONASTRIME (SPOndylar changes-NAsal anomaly-STRIated-MEtaphyses))

Fetal valproate syndrome (FVS)

Freeman–Sheldon syndrome (FSS) (Windmill-Vane-Hand syndrome)

Geleophysic dysplasia

Hurst syndrome

Jackson-Weiss syndrome (JWS)

Microdontia-microcephaly-short stature syndrome

Nager syndrome

Orofaciodigital (OFD) syndrome V (Thurston syndrome)

Orofaciodigital (OFD) syndrome X

Orofaciodigital (OFD) syndrome XI

Otopalatodigital (OPD) syndrome II

Pfeiffer syndrome 1

Rapadilino syndrome

Saethre-Chotzen syndrome (SCS)

Scott syndrome

Simpson-Golabi-Behmel (SGB) syndrome (SGBS) (Bulldog syndrome)

Snyder-Robinson syndrome (SRS)

Taybi syndrome (otopalatodigital (OPD) syndrome I)

Weaver syndrome

Craniofacial-Musculoskeletal-Endocrine syndromes

Chromosome 9p duplication syndrome

Chromosome 10p deletion syndrome

Craniofacial-Musculoskeletal-Endocrine-Hematologic syndromes

Van Goethem Syndrome

Craniofacial-Musculoskeletal-Neurologic syndromes

Chromosome 2p deletion syndrome

Chromosome 2q deletion syndrome

Chromosome 3p deletion syndrome

Chromosome 7q deletion syndrome

Chromosome 8p inverted duplication syndrome

Chromosome 8q duplication syndrome

Chromosome 12 ring syndrome

Chromosome 12p duplication syndrome

Chromosome 14 ring syndrome

Chromosome 14q deletion syndrome

Chromosome 17p duplication syndrome

Chromosome 18 ring syndrome

Chromosome 18p deletion syndrome

Chromosome 21q deletion syndrome

Chromosome 22 monosomy syndrome

Chromosome diploid/triploid mixoploidy syndrome

Chromosome XXXXX syndrome (chromosome X pentasomy)

Costello syndrome

Edinburgh malformation syndrome

Facial dysmorphia-hyperextensibility of joints-clinodactyly-growth retardation-mental retardation syndrome

Fetal aminopterin syndrome

Fetal aminopterin-like syndrome

Filippi syndrome

Floating-Harbor syndrome (FHS) (Pelletier-Leisti syndrome)

Fontaine syndrome (ectrodactyly-mandibulo-facial dysostosis syndrome)

Hall-Riggs syndrome

KBG syndrome

Kelly syndrome (microcephaly-digital anomalies syndrome)

Lateral meningocele syndrome

Lenz-Majewski syndrome

Macrocephaly-facial abnormalities-disproportionate tall stature-mental retardation syndrome

Marden-Walker syndrome (MWS)

Mercaptolactate-cysteine disulfiduria (MCDU)

Microcephaly-mild developmental delay-short stature-distinctive face syndrome

Microcephaly-mild mental retardation-short stature-skeletal anomalies syndrome

Oculo-auriculovertebral (OAV) dysplasia (Franceschetti-Goldenhar syndrome, Goldenhar syndrome (GS))

Orofaciodigital (OFD) syndrome VI (Juberg-Hayward syndrome, Váradi-Papp syndrome)

Orofaciodigital (OFD) syndrome I (Gorlin syndrome 1, Papillon-Léage and Psaume syndrome)

Orofaciodigital (OFD) syndrome II (Mohr syndrome)

Pfeiffer syndrome 2

Pfeiffer syndrome 3

Pitt-Rogers-Danks syndrome (PRDS)

Pterygium colli-mental retardation-digital anomalies syndrome

Radial ray defects-triangular face-telecanthus-sparse hair-dwarfism-mental retardation syndrome

Roberts syndrome (RS) (Appelt-Gerken-Lenz syndrome)

Sao Paulo MCA/MR syndrome

Say-Meyer syndrome

SC phocomelia syndrome

Smith-Fineman-Myers syndrome (SFMS)

Sotos syndrome (Nevo syndrome)

Shprintzen-Goldberg syndrome

Spinal muscular atrophy-microcephaly-mental retardation syndrome

Spondylometa-epiphyseal dysplasia-extreme short stature syndrome

Spondylometaphyseal dysplasia, X-linked

Teebi syndrome

Toriello syndrome II

Weaver-Williams syndrome

Wiedemann-Rautenstrauch (WR) syndrome

Wisconsin syndrome

Woods syndrome

Zerres syndrome

Craniofacial-Musculoskeletal-Neurologic-Auditory syndromes

Fountain syndrome

Craniofacial-Musculoskeletal-Neurologic-Auriculoocular syndromes

Genée-Wiedemann syndrome

Craniofacial-Musculoskeletal-Neurologic-Endocrine syndromes

Chromosome Xq deletion syndrome

Chudley syndrome 1

Chudley syndrome 2

Johanson-Blizzard syndrome (JBS)

Obesity-short stature-mental deficiency-hypogonadism-micropenis-finger contractures-cleft lip-palate syndrome

Craniofacial-Musculoskeletal-Neurologic-Gastrointestinal syndromes

Opitz-Kaveggia syndrome (Keller syndrome)

Craniofacial- Musculoskeletal-Neurologic- Hematologic syndromes

Cohen syndrome (Norio syndrome, Pepper syndrome)

Craniofacial- Musculoskeletal-Neurologic- Ophthalmic syndromes

Chromosome 8 trisomy syndrome

Craniofacial dysmorphism-absent corpus callosum-iris colobomas-connective tissue dysplasia syndrome

Fetal anticoagulant syndrome (DiSala syndrome)

Hallermann-Streiff syndrome (HSS) (François dyscephalia)

Orofaciodigital (OFD) syndrome VIII

Orofaciodigital (OFD) syndrome IX

Pseudoprogeria/Hallermann-Streiff syndrome (PHS)

Split foot-microphthalmia-cleft lip/palate-mental retardation syndrome

Split foot-microphthalmia-cleft lip/palate-mental retardation syndrome

syndactyly-cataracts-mental retardation syndrome

Craniofacial- Musculoskeletal-Neurologic- Ophthalmic-Gastrointestinal syndromes

Curry-Jones syndrome

Craniofacial- Musculoskeletal-Neurologic- Pulmonary syndromes

Über Autor(innen)

Nima Rezaei, is a MD, PhD in Clinical Immunology and Human Genetics. Having finished his PhD he was awarded a fellowship in Clinical Immunology and Bone Marrow Transplantation, Paediatric Immunology and Infectious Diseases in Northern Supra Regional Bone Marrow Transplant Unit for SCID and Related Disorders, Newcastle General Hospital.

He has since authored more than 500 publications, including the Springer, "Primary Immunodeficiency Diseases", Immunology of Aging" and "Cancer Immunology" series, to which he was awarded the 10th, 16th and 17th Avicenna Award for the book of the year. He was recognized as the distinguished young researcher to the prestigious Rhazi Award in in Medical Science Research on 2006 and 2012. In 2017 he was recognized by the National Academy of Medical Sciences, as “Iran’s Best Medical Researcher of the Past Decade’’. Iranian Primary Immunodeficiency Diseases Registry (IPIDR) since 1999, having more than thousands of PID and Paediatric Allergology and Immunology registered, is indeed one of his great scientific legacies.