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X-Linked Syndromic Mental Retardation Type Chudley-Schwartz

MRXSCS


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]
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]
Down Syndrome
  • However, single palmar creases can be associated with Down's syndrome and other genetic disorders, or with fetal alcohol syndrome.[ncbi.nlm.nih.gov]
  • Langenbeck and coworkers from G6ttingen used the Rodewald index method prospectively in an attempt to find fra(X) cases in a group of 160 institutionalized mentally retarded males without Down syndrome.[docslide.net]
  • Autism in down syndrome: Family history correlates. J. Intellect. Disabil. Res. 1997, 41, 87–91. [ Google Scholar ] [ CrossRef ] [ PubMed ] Moss, J.; Howlin, P.[mdpi.com]
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]
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]
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]
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]
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]
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]
Sex distribution
Age distribution

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).[docslide.com.br]

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.[docslide.com.br]

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