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Oculopalatoskeletal Syndrome


Presentation

  • JP Medical Ltd, ٣١‏/٠٣‏/٢٠١٢ - 548 من الصفحات The ninth edition of Ocular Differential Diagnosis is a practical manual to help practitioners make a quick diagnosis based on presentation and symptoms.[books.google.com]
  • Acronym 3MC1 Synonyms Craniosynostosis with lid anomalies Michels syndrome Oculopalatoskeletal syndrome Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Prasad Eye Institute, KAR Campus, Hyderabad - 500 034, Andhra Pradesh India Source of Support: None, Conflict of Interest: None DOI: 10.4103/0301-4738.143946 A 2-year 7-month-old girl born out of a consanguineous marriage, presented at our facility with[ijo.in]
  • Human genomes (the complete set of genes or genetic material present in a cell or organism) consist of 3 million DNA base pairs. They contain both protein-coding DNA genes and noncoding DNA.[dna.universeofatoms.com]
  • Indeed, the long-term response rate to splenectomy was 52% in the present series.[bloodjournal.org]
Fever
  • Practice guideline for the management of infants and children 0 to 36 months of age with fever without source. Pediatrics 1993;92:1-12. ‎ 28 ページ - Jaskiewicz JA, McCarthy CA, Richardson AC, et al.[books.google.com]
  • […] atrophy type 3 Olivopontocerebellar atrophy Ollier disease Olmsted syndrome Om-On Ombrophobia Omenn syndrome Omodysplasia type 1 Omphalocele cleft palate syndrome lethal Omphalocele exstrophy imperforate anus Omphalomesenteric cyst Omsk hemorrhagic fever[wikidoc.org]
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]
Anemia
Sparse Eyebrows
  • […] uveitis, keratitis Jacobsen’s syndrome (147791) Epicanthal folds, hypertelorism Ptosis, strabismus, coloboma, optic atrophy Kabuki syndrome (147920) Long palpebral fissures, eversion of lateral third of lower eyelids, ptosis, blue sclerae, broad/arched/sparse[clinicalgate.com]
Ptosis
  • Syndromes and diseases associated with exophthalmos, ptosis, strabismus, nystagmus, glaucoma, cataracts, uveitis and optic atrophy are discussed in detail.[books.google.com]
  • Wolf–Hirschhorn syndrome (194190) Hypertelorism, exophthalmos, ptosis, Rieger anomaly, nystagmus, iris coloboma[clinicalgate.com]
  • Carnevale syndrome shows hypertelorism, downslanting palpebral fissures, ptosis, strabismus synophrys, large and fleshy ears, and lozenge-shaped diastasis around the umbilicus.[ncbi.nlm.nih.gov]
  • […] syndrome Other names Oculopalatoskeletal syndrome This condition is inherited in an autosomal recessive manner [1] Specialty Medical genetics Michels syndrome is a syndrome characterised by intellectual disability, craniosynostosis, blepharophimosis, ptosis[en.wikipedia.org]
  • The distinctive facial features of people with 3MC syndrome include widely spaced eyes ( hypertelorism ), a narrowing of the eye opening ( blepharophimosis ), droopy eyelids ( ptosis ), highly arched eyebrows , and an opening in the upper lip ( cleft[ghr.nlm.nih.gov]
Strabismus
  • Syndromes and diseases associated with exophthalmos, ptosis, strabismus, nystagmus, glaucoma, cataracts, uveitis and optic atrophy are discussed in detail.[books.google.com]
  • […] cebocephaly, hypotelorism Incontinentia pigmenti (308300) Microphthalmia, cataract, optic atrophy, retinal vascular proliferation, retinal fibrosis, retinal detachment, uveitis, keratitis Jacobsen’s syndrome (147791) Epicanthal folds, hypertelorism Ptosis, strabismus[clinicalgate.com]
  • Carnevale syndrome shows hypertelorism, downslanting palpebral fissures, ptosis, strabismus synophrys, large and fleshy ears, and lozenge-shaped diastasis around the umbilicus.[ncbi.nlm.nih.gov]
  • Michels syndrome: The first case report from India and review of literature 1 Pediatric Ophthalmology and Strabismus Sevices, Jasti V Ramanamma Children's Eye Care Center, L. V.[ijo.in]
  • […] craniosynostosis with lid anomalies Malpuech facial clefting syndrome Malpuech syndrome Michels syndrome Mingarelli syndrome oculo-skeletal-abdominal syndrome oculopalatoskeletal syndrome OSA syndrome ptosis of eyelids with diastasis recti and hip dysplasia ptosis-strabismus-rectus[ghr.nlm.nih.gov]
Blepharoptosis
  • Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes.[uniprot.org]
  • Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome? Am J Med Genet A 2008;146A: 1059-62. 10.[ijo.in]
  • […] glaucoma, cataract, iris anomalies Oculopalatocerebral syndrome (257910) Persistent hypertrophic primary vitreous Microphthalmos, leukocoria, retrolental fibrovascular membrane; rarely reported Oculopalatoskeletal syndrome (257920) Blepharophimosis, blepharoptosis[clinicalgate.com]
  • Defects in MASP1 are the cause of 3MC syndrome type 1 (3MC1). 3MC1 is a disorder characterized by facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate, craniosynostosis, learning[mybiosource.com]
Abnormal Eye Movement
  • Syndrome (OMIM Number) Ophthalmologic Abnormality Aicardi–Goutières syndrome (225750) Visual inattention, abnormal eye movements Allan–Herndon–Dudley syndrome (300523) Rotary nystagmus, disconjugate eye movements Alpers’ syndrome (203700) Blindness, visual[clinicalgate.com]
Short Broad Feet
  • She had low set ears, broad hands, short fingers, and short broad feet [Figure 3] a-c. Figure 3: The features of Michels syndrome.[ijo.in]
Suggestibility
  • Further reading suggestions appear after each diagnostic description.[books.google.com]
  • Exclusion criteria were the following: presence of numerous fragmented red cells ( 5%) on the blood smear with a negative DAT, suggesting a thrombotic thrombocytopenic purpura; a diagnosis of chronic cold agglutinin disease, any other cause of hereditary[bloodjournal.org]
  • Of those 3 million base pairs, estimates suggest, between 20 and 25 thousand genes are protein-coding genes.[dna.universeofatoms.com]
  • Researchers suggest that similar pathways in the immune system can compensate for problems in the lectin complement pathway, which explains why immune system abnormalities are not part of 3MC syndrome .[ghr.nlm.nih.gov]
  • This constellation of features is suggestive of Michels syndrome. At the time of writing this report, there were only ten reported cases worldwide and to the best of our knowledge, there have been no published reports from India.[ijo.in]
Cleft Lip and-or Palate
  • Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes.[uniprot.org]
  • Defects in MASP1 are the cause of 3MC syndrome type 1 (3MC1). 3MC1 is a disorder characterized by facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate, craniosynostosis, learning[mybiosource.com]
Large Anterior Fontanels
  • anterior fontanelles, [7] severe axial dystonia [5] poor speech, mild psychomotor retardation and a bilateral conductive hearing loss, [5] which were all present in varying degrees in our patient.[ijo.in]
Broad Nasal Bridge
  • nasal bridge and an expressionless face [Figure 1].[ijo.in]
Nystagmus
  • Syndromes and diseases associated with exophthalmos, ptosis, strabismus, nystagmus, glaucoma, cataracts, uveitis and optic atrophy are discussed in detail.[books.google.com]
  • Syndrome (OMIM Number) Ophthalmologic Abnormality Aicardi–Goutières syndrome (225750) Visual inattention, abnormal eye movements Allan–Herndon–Dudley syndrome (300523) Rotary nystagmus, disconjugate eye movements Alpers’ syndrome (203700) Blindness, visual[clinicalgate.com]
Axial Dystonia
  • dystonia [5] poor speech, mild psychomotor retardation and a bilateral conductive hearing loss, [5] which were all present in varying degrees in our patient.[ijo.in]

Workup

  • On the basis of this analysis and on our previous experience on isolated wAIHAs, 21 we suggest that a minimal workup, including a chest and abdominal computed tomography scan should be performed in every patient diagnosed with ES (see Table 5 for proposals[bloodjournal.org]
Streptococcus Pneumoniae
  • However, patients who received a splenectomy have a lifelong increased risk of severe sepsis, and vaccination against Streptococcus pneumoniae , meningococcus, and Haemophilus is mandatory.[bloodjournal.org]

Treatment

  • Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines.[orpha.net]
  • To assess treatment efficacy, the following criteria were used.[bloodjournal.org]
  • 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]
  • Página 470 - Criteria for the diagnosis of ischemic vascular dementia proposed by the State of California Alzheimer's Disease Diagnostic and Treatment Centers. ‎[books.google.es]
  • Palliative treatment includ- ing chemoradiation and stereotactic main part radiotherapy continues to evolve order finpecia discount.[nhha.org]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]

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]
  • Relevant External Links for MASP1 Genetic Association Database (GAD) MASP1 Human Genome Epidemiology (HuGE) Navigator MASP1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: MASP1 No data available for Genatlas for MASP1 Gene Molecular characterization[genecards.org]
  • The epidemiologic, clinical, and biologic data from every patient were collected by each investigator by using a standardized structured form and then reviewed and analyzed by the same investigator (M.M.).[bloodjournal.org]
Sex distribution
Age distribution

Pathophysiology

  • Pooling more clinical and immunologic data in the future, throughout international working groups and networks will be helpful to learn more about ES pathophysiology and for refining therapeutic strategies.[bloodjournal.org]

Prevention

  • Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎[books.google.es]
  • […] cases reported here (mean delay between both cytopenias of 4.2 3.4 years) suggests that both in primary or secondary ES, the disruption of self-tolerance may be a multiple step process and that being treated for one immune cytopenia does not necessarily prevent[bloodjournal.org]

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