Atlas of X-linked Intellectual Disability Syndromes (2nd edition)

ISBN : 9780199811793

Roger E. Stevenson; Charles E. Schwartz; R. Curtis Rogers
368 ページ
219 x 286 mm

The Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive and up-to-date summary of the clinically distinctive disorders caused by genes on the X chromosome. Clinical and laboratory data on 150 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differential matrix accompanies each syndrome description to assist the reader in identifying other X-linked syndromes with overlapping features. Individual syndrome entries are supplemented with nineteen appendices that identify syndromes with common features and provide the location or mapping limits and function of the responsible genes. The authors have extensive experience in the clinical and laboratory delineation of X-linked intellectual disability. They have described new syndromes, regionally mapped disease loci on the X chromosome, and identified the genes responsible for X-linked syndromes.


Aarskog Syndrome
Abidi Syndrome
Ahmad Syndrome
Aicardi Syndrome
Allan-Herndon-Dudley Syndrome
Alpha-Thalassemia Intellectual Disability (see also ATRX-Associated XLID)
AP1S2-Associated XLID
Apak Ataxia-Spastic Diplegia Syndrome
Arena Syndrome (see Pelizaeus-Merzbacher Syndrome)
Armfield Syndrome
Arts Syndrome
ARX-Associated XLID
Ataxia-Deafness-Dementia, X-linked
Atkin-Flaitz Syndrome
ATRX-Associated XLID
Bergia Cardiomyopathy
Bertini Syndrome
Borjeson-Forssman-Lehmann Syndrome
Branchial Arch Syndrome, X-Linked
Cantu Syndrome
Carpenter-Waziri Syndrome (see also ATRX-Associated XLID)
Cerebro-Cerebello-Coloboma Syndrome
Cerebro-Oculo-Genital Syndrome
Cerebro-Palato-Cardiac Syndrome (see also Renpenning Syndrome)
Charcot-Marie-Tooth Neuropathy, Cowchock Variant
Charcot-Marie-Tooth Neuropathy, Ionasescu Variant
Chassaing-Lacombe Chondrodysplasia
Christian Syndrome
Christianson Syndrome
Chudley-Lowry Syndrome (see also ATRX-Associated XLID)
CK Syndrome
Clark-Baraitser Syndrome
Coffin-Lowry Syndrome
Cornelia de Lange Syndrome, X-Linked
Duchenne Muscular Dystrophy
Dyskeratosis Congenita
Epilepsy-Intellectual Disability in Females
Fitzsimmons Syndrome
FLNA-Associated XLID
Fragile X Syndrome
Giuffre-Tsukahara Syndrome
Glycerol Kinase Deficiency
Golabi-Ito-Hall Syndrome (see also Renpenning Syndrome)
Goldblatt Spastic Paraplegia Syndrome
Goltz Syndrome
Graham Anophthalmia Syndrome
Gustavson Syndrome
Hall Orofacial Syndrome
Hereditary Bullous Dystrophy, X-Linked
Holmes-Gang Syndrome (see also ATRX-Associated XLID)
Homfray Seizures-Contractures
Hyde-Forster Syndrome
Hydranencephaly with Abnormal Genitalia
Hydrocephaly-Cerebellar Agenesis Syndrome
Hydrocephaly-MASA Spectrum
Hypoparathyroidism, X-Linked
Incontinentia Pigmenti
Kang Syndrome
Lenz Microphthalmia Syndrome
Lesch-Nyhan Syndrome
Lissencephaly and Abnormal Genitalia, X-Linked (see also ARX-Associated XLID)
Lissencephaly, X-Linked
Lowe Syndrome
Lujan Syndrome
MEHMO Syndrome
Menkes Syndrome
MIDAS Syndrome
Miles-Carpenter Syndrome
Mohr-Tranebjaerg Syndrome
Monoamine Oxidase-A Deficiency
Mucopolysaccharidosis IIA
Myotubular Myopathy
Nance-Horan Syndrome
Norrie Disease
Optic Atrophy, X-Linked
Opitz FG Syndrome
Oral-Facial-Digital Syndrome I
Ornithine Transcarbamoylase Deficiency
Otopalatodigital Syndrome I (see also FLNA-Associated XLID)
Otopalatodigital Syndrome II (see also FLNA-Associated XLID)
Paine Syndrome
Pallister W Syndrome
Partington Syndrome (see also ARX-Associated XLID)
Pelizaeus-Merzbacher Syndrome
Periventricular Nodular Heterotopia (see also FLNA-Associated XLID)
Pettigrew Syndrome
Phosphoglycerate Kinase Deficiency
Plott Syndrome
Porteous Syndrome (see also Renpenning Syndrome)
Prieto Syndrome
Proud Syndrome (see also ARX-Associated XLID)
Pyruvate Dehydrogenase Deficiency
Renpenning Syndrome
Rett Syndrome
Rett-like Seizures-Hypotonia
Roifman Syndrome
Say-Meyer Syndrome
Schimke Syndrome
Shashi Syndrome
Shrimpton Syndrome
Simpson-Golabi-Behmel Syndrome
Smith-Fineman-Myers Syndrome
Snyder-Robinson Syndrome
Stocco dos Santos Syndrome
Stoll Syndrome
Sutherland-Haan Syndrome (see also Renpenning Syndrome)
Telecanthus-Hypospadias Syndrome
Turner XLID
Urban Syndrome
VACTERL-Hydrocephalus Syndrome
Vasquez Syndrome
Waisman-Laxova Syndrome
Warkany Syndrome
Wieacker-Wolff Syndrome
Wilson-Turner Syndrome
Wittwer Syndrome
XLID-Agenesis of the Corpus Callosum
XLID-Arch Fingerprints-Hypotonia Syndrome (see also ATRX-Associated XLID)
XLID-Choroideremia-Ectodermal Dysplasia
XLID-Cleft Lip/Cleft Palate
XLID-Epilepsy (XIDE)
XLID-Hydrocephaly-Basal Ganglia Calcifications (see also AP1S2-Associated XLID)
XLID-Hypotonia-Recurrent Infections
XLID-Infantile Spasms (see also ARX-Associated XLID)
XLID-Isolated Growth Hormone Deficiency
XLID-Microcephaly-Testicular Failure
XLID-Nail Dystrophy-Seizures
XLID-Optic Atrophy
XLID-Precocious Puberty
XLID-Retinitis Pigmentosa
XLID-Rolandic Seizures
XLID-Spastic Paraplegia, Type 7
XLID-Spastic Paraplegia-Athetosis
XLID-Spondyloepimetaphyseal Dysplasia
XLID-Thyroid Aplasia-Cutis Verticis Gyrata
XLID-Thyroxine-Binding Globulin Deficiency
Young-Hughes Syndrome
I. Genes Involved in X-Linked Intellectual Disability (by order of discovery)
II. XLID Syndromes with Microcephaly
III. XLID Syndromes with Macrocephaly
IV. XLID Syndromes with Ocular Anomalies and/or Visual Impairment
V. XLID Syndrome with Hearing Loss
VI. XLID Syndromes with Facial Clefting
VII. XLID Syndromes with Cardiac Malformations or other Cardiovascular Abnormalities
VIII. XLID Syndromes with Urogenital Anomalies
IX. XLID Syndromes with Neuronal Migration Disturbance
X. XLID Syndromes with Spastic Paraplegia
XI. XLID Syndromes with Seizures
XII. XLID Syndromes with Hypotonia
XIII. XLID Syndromes Predominately Affecting Females
XIV. Duplication of XLID Genes and Regions of the X Chromosome Genome
XV. Non-Syndromal XLID Families
XVI. X-Inactivation in Heterozygous Females


Roger E. Stevenson, M.D., is a senior clinical geneticist and founder of the Greenwood Genetic Center. Charles E. Schwartz, Ph.D., is the Director of Research and Head of J.C. Self Research Institute at the Greenwood Genetic Center. R. Curtis Rogers, M.D., is a senior clinical geneticist at the Greenwood Genetic Center.