Presentation
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
Clinical and laboratory data on 130 syndromes are presented in a concise and consistent manner. [ebay.com]
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
CWS Holmes-Gang syndrome JMS Juberg-Marsidi syndrome Mental retardation X-linked with growth retardation deafness and microgenitalism SFM1 SFMS Smith-Fineman-Myers syndrome 1 XLMR-hypotonic facies syndrome Keywords Any medical or genetic information present [uniprot.org]
Tessa Webb presented the results of an extensive cytogenetic study of 3 fra(X)-positive fetuses. She cultured a number of different tissues and cell types including lung, testes, kidney, skin and muscle and found a fragile (X) to be present in all. [docslide.net]
Entire Body System
-
Disability
Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material [malacards.org]
disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability, Najm type X-linked intellectual disability, Nascimento type X-linked intellectual disability, Pai type X-linked intellectual disability, [se-atlas.de]
Intellectual Disability Intellectual disability, autosomal recessive Intellectual Disability Intellectual disability, syndromal Intellectual Disability Intellectual disability, X-linked Intellectual Disability Joubert syndrome Intellectual Disability [genomediagnosticsnijmegen.nl]
Keywords Adaptive Behavior Advocacy Assessment Autism spectrum disorder Cerebral palsy Developmental disabilities Genetic disorders Learning disabilities Litigation Mental disabilities Mental health services Mental retardation autism behavior Editors [link.springer.com]
-
Epilepsy
Benign childhood occipital epilepsy, Gastaut type Benign childhood occipital epilepsy, Panayiotopoulos type Benign familial infantile epilepsy Benign familial mesial temporal lobe epilepsy Benign familial neonatal epilepsy Benign familial neonatal-infantile [se-atlas.de]
Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." Scoliosis MedGen UID: 21278 • Concept ID: C0037932 • Finding The presence of an abnormal lateral curvature of the spine. [ncbi.nlm.nih.gov]
Syndrome ; Chudley-Lowry Syndrome (see also ATRX-Associated XLID) ; CK Syndrome ; Clark-Baraitser Syndrome ; Coffin-Lowry Syndrome ; Cornelia de Lange Syndrome, X-Linked ; Craniofacioskeletal ; Duchenne Muscular Dystrophy ; Dyskeratosis Congenita ; Epilepsy-Intellectual [worldcat.org]
雑誌 Am J Hum Genet 97:343-52 (2015) DOI: 10.1016/j.ajhg.2015.07.004 文献 PMID: 28098945 著者 Damiano JA, Burgess R, Kivity S, Lerman-Sagie T, Afawi Z, Scheffer IE, Berkovic SF, Hildebrand MS タイトル Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia [genome.jp]
-
Developmental Delay
Global developmental delay MedGen UID: 892935 • Concept ID: C4020875 • Pathologic Function A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills [ncbi.nlm.nih.gov]
[…] the association between a larger microdeletion on 16p and a syndrome that included developmental delay, distinct facial appearance, and other variable features. [nejm.org]
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome Related symptoms: Intellectual disability Seizures Global developmental delay Generalized hypotonia Microcephaly SOURCES: UMLS MONDO OMIM DOID More info about MENTAL RETARDATION [mendelian.co]
Delay-Hypotonia Syndrome Raine Syndrome Renpenning Syndrome 1 Robin Sequence With Cleft Mandible And Limb Anomalies Rodrigues Blindness Scalp-Ear-Nipple Syndrome Schizophrenia 1 Seckel Syndrome 9 Sheldon-Hall Syndrome Syndromic X-Linked Intellectual [familydiagnosis.com]
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Intellectual disability-hypotonia-spasticity-sleep [se-atlas.de]
-
Single Transverse Palmar Crease
Single transverse palmar crease MedGen UID: 96108 • Concept ID: C0424731 • Finding A single transverse palmar crease is found in 5% of newborns and is frequently inherited as a familial trait. [ncbi.nlm.nih.gov]
-
Rigor
By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. [books.google.com]
Jaw & Teeth
-
Prognathism
Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome X-Linked Intellectual Disability, Pai Type X-Linked Intellectual Disability With Marfanoid Habitus X-Linked Mandibulofacial Dysostosis X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism [familydiagnosis.com]
It is associated with a mild facial dysmorphism (anterverted nostrils, moderate prognathism), and, in a kindred, it was also associated with dental anomalies and deafness. [mendelian.co]
Craniofacial features include deep-set eyes, broad nasal bridge and nasal tip, a wide mouth, a thin upper lip and prognathism ( figure 1 C and table 1 ). [bmjopen.bmj.com]
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Intellectual disability-obesity-prognathism-eye [se-atlas.de]
Skin
-
Hypertrichosis
Top matches: Low match HYPERTRICHOSIS, CONGENITAL GENERALIZED; HTC2 X-linked congenital generalized hypertrichosis is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, which is characterized by hair overgrowth on [mendelian.co]
The concept does not include HYPERTRICHOSIS, which is an androgen-independent excessive hair growth. [ncbi.nlm.nih.gov]
[…] metameric syndrome Cerebrofacial arteriovenous metameric syndrome type 1 Cerebrofacial arteriovenous metameric syndrome type 3 Cerebrofacioarticular syndrome Cerebrooculonasal syndrome Cerebroretinal vasculopathy Cerebrotendinous xanthomatosis Cervical hypertrichosis-peripheral [se-atlas.de]
A metabolic disease could also be suspected based on certain clinical symptoms, such as digestion-related symptoms (cyclic vomiting, selective eating or gastrointestinal problems), dermatologic and hair changes (rashes, pigmented skin eruptions, hypertrichosis [mdpi.com]
-
Hirsutism
Agenesis of permanent teeth Gingival fibromatosis Skeletal dysplasia Generalized hypertrichosis Congenital, generalized hypertrichosis Thick vermilion border Dolichocephaly Cardiomyopathy Generalized hirsutism Low-set ears Myopathy Progressive microcephaly [mendelian.co]
Hirsutism MedGen UID: 42461 • Concept ID: C0019572 • Finding A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. [ncbi.nlm.nih.gov]
Face, Head & Neck
-
Hypertelorism
Hypertelorism MedGen UID: 9373 • Concept ID: C0020534 • Finding Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. [ncbi.nlm.nih.gov]
* Features attributed to FGS include, forehead, hair upsweep, abnormal ears, hypertelorism, fissures, thumbs halluces, fingertip pads, complete agenesis of the corpus callosum, mental retardation, hypotonia, behavior consisting, , personality short [factpub.org]
Abnormal facial shape Delayed speech and language development Thick eyebrow Short stature Microcephaly Hyperactivity Generalized hypotonia Abnormality of the dentition Aggressive behavior Rare Symptoms - Less than 30% cases Downslanted palpebral fissures Hypertelorism [mendelian.co]
"Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance". Human molecular genetics. 2014; 23: 2888 ( #1059502 ) 17. [med.nyu.edu]
[…] the aqueduct of Sylvius Hydrocephaly-cerebellar agenesis syndrome Hyperekplexia-epilepsy syndrome Hyperostosis corticalis generalisata Hyperphalangy Hyperphalangy, bilateral Hyperphalangy, unilateral Hyperphosphatasia-intellectual disability syndrome Hypertelorism [se-atlas.de]
Neurologic
-
Seizure
Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has material [malacards.org]
Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." Scoliosis MedGen UID: 21278 • Concept ID: C0037932 • Finding The presence of an abnormal lateral curvature of the spine. [ncbi.nlm.nih.gov]
XLID-Nystagmus-Seizures ; XLID-Optic Atrophy ; XLID-Panhypopituitarism ; XLID-Precocious Puberty ; XLID-Psoriasis ; XLID-Retinitis Pigmentosa ; XLID-Rolandic Seizures ; XLID-Spastic Paraplegia, Type 7 ; XLID-Spastic Paraplegia-Athetosis ; XLID-Spondyloepimetaphyseal [worldcat.org]
More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016 ). [mendelian.co]
Benign hereditary chorea Benign infantile focal epilepsy with midline spikes and waves during sleep Benign infantile seizures associated with mild gastroenteritis Benign nocturnal alternating hemiplegia of childhood Benign non-familial infantile seizures [se-atlas.de]
-
Ataxia
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type, also known as mrxscs, is related to mental retardation, x-linked, syndromic, cabezas type and syndromic x-linked intellectual disability cabezas type, and has symptoms including seizures and ataxia [malacards.org]
Cerebellar ataxia MedGen UID: 849 • Concept ID: C0007758 • Disease or Syndrome Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. [ncbi.nlm.nih.gov]
37 Spinocerebellar Ataxia 40 Spinocerebellar Ataxia 41 Spinocerebellar Ataxia 42 Spinocerebellar Ataxia, Autosomal Recessive 15 Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal [familydiagnosis.com]
[…] type 1 Spinocerebellar ataxia type 10 Spinocerebellar ataxia type 11 Spinocerebellar ataxia type 12 Spinocerebellar ataxia type 13 Spinocerebellar ataxia type 14 Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 17 Spinocerebellar ataxia [se-atlas.de]
Contenuti: Aarskog Syndrome ; Abidi Syndrome ; Adrenoleukodystrophy ; Ahmad Syndrome ; Aicardi Syndrome ; Allan-Herndon-Dudley Syndrome ; Alpha-Thalassemia Intellectual Disability (see also ATRX-Associated XLID) ; AP1S2-Associated XLID ; Apak Ataxia-Spastic [worldcat.org]
-
Cerebellar Ataxia
Cerebellar ataxia MedGen UID: 849 • Concept ID: C0007758 • Disease or Syndrome Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. [ncbi.nlm.nih.gov]
ataxia Autosomal dominant cerebellar ataxia type I Autosomal dominant cerebellar ataxia type II Autosomal dominant cerebellar ataxia type III Autosomal dominant cerebellar ataxia type IV Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome [se-atlas.de]
Some causes may include: 1 Causes of Unsteady Gait : 7q11.23 Microduplication Syndrome AL-Raqad Syndrome Ataxia-Pancytopenia Syndrome Ataxia-Telangiectasia-Like Disorder 2 Cerebellar Ataxia, Nonprogressive, With Mental Retardation Cerebelloparenchymal [familydiagnosis.com]
-
Peripheral Neuropathy
Related phenotypes are peripheral neuropathy and cerebellar atrophy [malacards.org]
Peripheral neuropathy MedGen UID: 141046 • Concept ID: C0442874 • Disease or Syndrome Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. [ncbi.nlm.nih.gov]
neuropathy-myopathy-hoarseness-hearing loss syndrome Periventricular nodular heterotopia Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome Peroxisome biogenesis disorder Perry syndrome Persistent combined dystonia Peters [se-atlas.de]
neuropathy, hypotonia Potocki–Lupski syndrome (17p11.2 duplication) [ 89 ] NA 50–100 Normal to moderate Decreased eye contact, motor manierisms or posturing, sensory hypersensitivity or preoccupation, repetitive behaviors or interests, lack of appropriate [mdpi.com]
-
Dysmetria
This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia [ncbi.nlm.nih.gov]
Treatment
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
Clinicians, academics, administrators, and a variety of mental health providers alike need easy-to-access, reliable information that enables them to stay abreast of the numerous advances in research, assessment, treatment, and service delivery within [link.springer.com]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
Most importantly for the patients, some of the gene discoveries have pointed to potential strategies for treatment. [factpub.org]
Prognosis
PMID: 26421989 Prognosis Prasad H, Rao R Proc Natl Acad Sci U S A 2018 Jul 10;115(28):E6640-E6649. Epub 2018 Jun 26 doi: 10.1073/pnas.1801612115. [ncbi.nlm.nih.gov]
Some authors [ 12, 19 ] suggest that syndromic autism (SA), compared to non-syndromic autism (NSA), is associated with a poorer prognosis, a lower male-to-female sex ratio (SA: 3/1; NSA: 6/1), and a lower sibling recurrence risk (SA: 4%–6%; NSA: up to [mdpi.com]
Etiology
Etiology Proc Natl Acad Sci U S A 2018 Jul 10;115(28):E6640-E6649. Epub 2018 Jun 26 doi: 10.1073/pnas.1801612115. PMID: 29946028 Free PMC Article Seltzer LE, Paciorkowski AR Am J Med Genet C Semin Med Genet 2014 Jun;166C(2):140-55. [ncbi.nlm.nih.gov]
For example, the handbook: Opens with chapters that offer a comprehensive review of current definitions, classifications, etiology, and findings on the most prevalent conditions, including cerebral palsy, pediatric brain injury, genetic syndromes, and [link.springer.com]
Thesefindings gave new etiological information relevantfor recurrence risk assessments.In Patient 1, the phenotypically normal fathercarried the same inversion of chromosome 4 as thepatient. [docslide.com.br]
Phenylketonuria: An underlying etiology of autistic syndrome report. J. [mdpi.com]
[…] malformation syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Spondyloepiphyseal dysplasia, Nishimura type Sporadic Creutzfeldt-Jakob disease Sporadic adult-onset ataxia of unknown etiology [se-atlas.de]
Epidemiology
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
Autism and associated medical disorders in a French epidemiological survey. J. Am. Child Adolesc. [mdpi.com]
Epidemiology of autistic disorder and other pervasive developmental disorders. J Clin Psychiatry 2005 ;66: Suppl 10 : 3 - 8 2. Freitag CM. The genetics of autistic disorders and its clinical relevance: a review of the literature. [nejm.org]
Crawford DC, Acuna JM, Sherman SL: FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med 3:359–371 (2001). [karger.com]
SESSION VI: GENETICS AND EPIDEMIOLOGY Chairperson: Gillian Turner The session on the epidemiology of the fragile X produced reports on a variety of survey methods. [docslide.net]
Pathophysiology
Genetics and pathophysiology of mental retarda-tion. Eur. J. Hum. Genet. 14, 701713.19. Ropers, H.H., and Hamel, B.C. (2005). X-linked mentalretardation. Nat. Rev. Genet. 6, 4657.20. Kleefstra, T., and Hamel, B.C. (2006). [documents.tips]
Prevention
The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]
Its contributors comprise a panel of the leading scientist-clinicians, who offer much-needed insight and guidance into ongoing improvements in theory and practice as well as intervention and prevention. [link.springer.com]
In two of these, informative DNA markers suggested that the fetus carried the mutation, and in one case an apparent cross-over between the flanking probes prevented the use of RFLP analysis. [docslide.net]
At the same time, it has improvedthe clinical diagnosis of XLID and allowed for carrier detectionand prevention strategies through gamete donation, prenataldiagnosis, and genetic counseling. [documents.tips]