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Intellectual Disability - Spasticity - Ectrodactyly Syndrome

Jancar Syndrome


Presentation

  • The nystagmus may be present at birth. Systemic Features: No systemic disease is present. Genetics No specific mutation has been found but 3 individuals in one family shared a haplotype suggesting a locus at 7p11.2.[disorders.eyes.arizona.edu]
  • Arthritis is usually a polyarticular synovitis and tenosynovitis and is commonly present (95 %). Camptodactyly with synovial cysts are also be present.[entokey.com]
  • Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises 299 Million January 23, 2019 By Daniel S.[globalgenes.org]
  • 226 POSTER SESSIONS W W ednesday authors will present; T Thursday authors will present; F Friday authors will pr esent 2792 F CTNNB1 mutation in siblings with intellectual disability, spasticity and microcephaly. D.[ashg.org]
  • Minor anomalies were present in 41 patients (17.6%). Their presence was significantly associated with the severity of the MR.[karger.com]
Disability
  • Orpha Number: 1891 Disease definition Intellectual disability - spasticity -ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal[rarediseases.info.nih.gov]
  • Camera Marugo Cohen syndrome 0 *Obesity *Lordosis *Intellectual Disability *Muscle Weakness. CAHMR syndrome 0 *Cataract *Hypertrichosis *Intellectual Disability.[reference.md]
  • There are a number of causes of intellectual disability.[crm.diseaseinfosearch.org]
  • disability, Cilliers type X-linked intellectual disability, Golabi-Ito-Hall type X-linked intellectual disability, Gu type X-linked intellectual disability, Hedera type X-linked intellectual disability, Miles-Carpenter type X-linked intellectual disability[se-atlas.de]
  • Disabilities; Intellectual Disability; Mental Deficiencies; Mental Retardations, Psychosocial; Psychosocial Mental Retardation; Psychosocial Mental Retardations; Retardation, Psychosocial Mental; Retardations, Psychosocial Mental[curehunter.com]
Physician
  • Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and[books.google.com]
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • To make a diagnosis of intellectual disability, a psychologist or physician will use measures of intellectual functioning (mental capacity for learning, reasoning, problem solving, and so on, often known as an “IQ test”) and adaptive behavior, including[crm.diseaseinfosearch.org]
  • […] early onset strokes Intellectual disability depending on the severity of the strokes Spasticity (unusual “tightness”, stiffness, or “pull” of muscles.) or “cerebral palsy” Hematology Leukocytosis with eosinophilia during stage 1 Diagnosing IP Syndrome A physician[nfed.org]
  • In 1929, two Swedish physicians Gröenblad and Strandberg made the association between PXE and angioid streaks [ 63 ].[entokey.com]
Amyloidosis
  • Content type: Research article View Full Text View PDF Content type: Research article View Full Text View PDF Content type: Research article View Full Text View PDF Content type: Case report A new genetic variant of hereditary apolipoprotein A-I amyloidosis[bmcmedgenet.biomedcentral.com]
  • Common variable immunodeficiency Palatopharyngeal incompetence Ollier disease Emanuel syndrome Leukoencephalopathy palmoplantar keratoderma Mucopolysaccharidosis type III Fitzsimmons Walson Mellor syndrome Tetraamelia multiple malformations X-linked Amyloidosis[checkrare.com]
  • Familial Aggregation Study Next Generation and Sanger sequencing to avoid pseudogenes of a panel of 21 genes: APC, ATM, BRCA1, BRCA2, BRIP1, CDH1,CHEK2, ERCC4, HOXB13, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS1, PTEN, RAD51C, RAD51D, STK11, TP53, XRCC2 Familial Amyloidosis[pentacorelab.hu]
Single Transverse Palmar Crease
  • transverse palmar creases 0007598 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Finger syndactyly 0006101 Hyperreflexia Increased reflexes 0001347 Spastic paraplegia 0001258 Percent of people who have these symptoms is[rarediseases.info.nih.gov]
  • transverse palmar creases 60 Frequent (79-30%) 9 split hand 33 HP:0001171 10 abnormality of the upper limb 60 Frequent (79-30%) Symptoms via clinical synopsis from OMIM: 58 Neuro: spastic paraplegia mental retardation Limbs: ectrodactyly Clinical features[malacards.org]
Movement Disorder
  • disorder Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet Friedreich ataxia Aicardi-Goutieres syndrome type 5 Corneodermatoosseous syndrome Ankyloblepharon filiforme adnatum cleft palate Renpenning syndrome[checkrare.com]
Abnormal Eye Movement
  • Nystagmus 4, AD Clinical Characteristics Ocular Features: Abnormal eye movements generally are present as early as 1 to 2 years of life and are stable but they are not congenital in origin.[disorders.eyes.arizona.edu]
Hearing Impairment
  • WAARDENBURG SYNDROME TYPE 3 Is also known as klein-waardenburg syndrome; ws3; waardenburg syndrome type iii; waardenburg syndrome with limb anomalies Related symptoms: Intellectual disability Hearing impairment Microcephaly Downslanted palpebral fissures[mendelian.co]
  • Hearing impairment. J Intellect Dis Res 1995;39:27–33.[karger.com]
  • impairment and/or cleft palate Sanger sequencing of the HOXA2 gene Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia NGS and Sanger Sequencing in the CACNA1A gene Migraine, familial, autosomal dominant NGS of 7 gene panel: ATP1A2,[pentacorelab.hu]
Muscle Spasticity
  • Links Publisher Full Text Authors Source MeSH Abnormalities, Multiple Child, Preschool Consanguinity Humans Intellectual Disability Limb Deformities, Congenital Male Muscle Spasticity Paralysis Syndrome Pub Type(s) Case Reports Journal Article Language[wwww.unboundmedicine.com]
  • Seemanova Lesny syndrome 0 *Abnormalities, Multiple *Cataract/congenital *Growth Disorders *Hypogonadism *Intellectual Disability *Microcephaly *Muscle Spasticity.[reference.md]
  • Read More cranberry99 neck-muscle-spasticity-after-surgery 200210 Hi all - I had a TT and left neck dissection on Feb 19 (not quite 2 weeks ago).[inspire.com]
  • Spastic paraplegia 51 Lachiewicz Sibley syndrome 22q11.2 duplication syndrome Subaortic stenosis short stature syndrome Ouvrier Billson syndrome Short rib-polydactyly syndrome type 3 Oculocutaneous albinism type 1 Bardet-Biedl syndrome 3 Autosomal dominant[checkrare.com]
Hand Deformity
  • deformities Claw hands Claw-hand deformities Split-hand [ more ] 0001171 Showing of 9 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease.[rarediseases.info.nih.gov]
  • Pfeiffer Tietze Welte syndrome 0 *Abnormalities, Multiple *Craniosynostoses *Foot Deformities, Congenital *Hand Deformities, Congenital *Intellectual Disability.[reference.md]
Spastic Paraplegia
  • Orpha Number: 1891 Disease definition Intellectual disability - spasticity -ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal[rarediseases.info.nih.gov]
  • This association of ectrodactyly, mental retardation, and spastic paraplegia was first reported by Jancar [1967].[wwww.unboundmedicine.com]
  • Spastic paraplegia 14, autosomal recessive 0 *Intellectual Disability *Spastic Paraplegia, Hereditary. Spastic diplegia infantile type 0 *Intellectual Disability *Spastic Paraplegia, Hereditary.[reference.md]
  • Frequent (79-30%) 8 bilateral single transverse palmar creases 60 Frequent (79-30%) 9 split hand 33 HP:0001171 10 abnormality of the upper limb 60 Frequent (79-30%) Symptoms via clinical synopsis from OMIM: 58 Neuro: spastic paraplegia mental retardation[malacards.org]
  • […] porphyria Ankyloblepharon filiforme imperforate anus Spastic paraplegia 7 Spastic paraplegia 26 Trichodental syndrome Spastic paraplegia 5A Wagner syndrome Spasmodic dysphonia Al Gazali syndrome Paroxysmal exertion-induced dyskinesia KCNQ2-Related Disorders[checkrare.com]
Hyperreflexia
  • -79% of people have these symptoms Abnormality of the hip bone Abnormality of the hips 0003272 Bilateral single transverse palmar creases 0007598 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Finger syndactyly 0006101 Hyperreflexia[rarediseases.info.nih.gov]
  • Frequency Orphanet Frequency HPO Source Accession 1 intellectual disability 60 33 Very frequent (99-80%) HP:0001249 2 spastic paraplegia 60 33 Frequent (79-30%) HP:0001258 3 finger syndactyly 60 Frequent (79-30%) 4 spasticity 60 Very frequent (99-80%) 5 hyperreflexia[malacards.org]
Claw Hand Deformity
  • hand deformities Claw hands Claw-hand deformities Split-hand [ more ] 0001171 Showing of 9 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease.[rarediseases.info.nih.gov]

Treatment

  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.com]
  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Treatment Treatment Options: No specific treatment is available for this syndrome but individual signs and symptoms may need treatment.[disorders.eyes.arizona.edu]
  • More Symptoms of Mental retardation spasticity ectrodactyly » Treatments See also the following treatment articles: Treatments for Intellectual disabilities Treatments for Spasticity Causes See also causal information: Causes of Mental retardation Causes[familydiagnosis.com]
  • Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground.[globalgenes.org]

Prognosis

  • Predictors of poor prognosis include cataracts noted at birth or within the first 3 years of life, microphthalmia or iris hypoplasia [ 73 ].[entokey.com]

Etiology

  • Synonyms intellectual disability - spasticity - ectrodactyly jancar syndrome Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here.[pediascape.org]
  • This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual is mentally retarded.[curehunter.com]
  • 45% genetic etiology can be identified in up to 40% !![brainscape.com]
  • […] with a targeted next-generation sequencing panel Dwarfism is a common severe growth disorder, but the etiology is unclear in the majority of cases.[bmcmedgenet.biomedcentral.com]
  • Czeizel A, Lányi-Engelmayer A, Klujber L, Métneki J, Tusnády G: Etiological study of mental retardation in Budapest, Hungary. Am J Ment Defic 1980;85:120–122.[karger.com]

Epidemiology

  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.com]
  • Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare renal disease - Rare skin disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Temtamy SA, Kandil MR, Demerdash AM, Hassan WA, Meguid NA, Afifi HH: An epidemiological/genetic study of mental subnormality in Assiut Governorate, Egypt. Clin Genet 1994;46:347–351.[karger.com]
  • Epidemiology Albinism can affect people of all ethnic backgrounds. Approximately one in 17,000 people have albinism [Table 8.1 ] [ 2 ].[entokey.com]
  • Fraser syndrome: frequency in our environment and clinical-epidemiological aspects of a consecutive series of cases . An Esp Pediatr , 48 , 634 –8. Mccandless , A. and Walker , S. ( 1976 ). D13 ring chromosome syndrome .[cambridge.org]
Sex distribution
Age distribution

Prevention

  • Local excision of trichilemmomas are often adequate with careful scrutiny of surgical margins to prevent benign recurrence [ 13 ].[entokey.com]
  • Conclusion: Establishing the diagnosis in older mentally retarded patients is important in the prevention of medical complications and in the development of management strategies for the institution.[karger.com]

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