* European Reference Network The documents contained in this web site are presented for information purposes only. [orpha.net]

We present, to the best of our knowledge, the first prenatal report of 3MC syndrome, secondary to a homozygous variant in MASP1. [jhu.pure.elsevier.com]

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]

Ptosis, unilateral or bilateral, can be present. One patient was reported to have unilateral aniridia and a corneal leucoma. Tear duct atresia was reported in another individual. [disorders.eyes.arizona.edu]

Cleft lip/palate was not present in our patient; however, there is a history of a sibling with similar dysmorphic features and cleft palate resembling 3MC syndrome. [karger.com]

• Short Finger

  She had low set ears, broad hands, short fingers, and short broad feet [Fig. 3a–c]. The features of Michels syndrome. [ncbi.nlm.nih.gov]

  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]

• Hearing Impairment

  Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. [ncbi.nlm.nih.gov]

  At age three years, intellectual disability, hyperactivity and obsessive compulsive disorder were diagnosed; hearing impairment was diagnosed at age six, managed with the use of hearing aids. [en.wikipedia.org]

  Possible clinical traits/features: Wide anterior fontanel, Omphalocele, Autosomal recessive inheritance, Sacral dimple, Clinodactyly of the 5th finger, Conjunctival telangiectasia, Cleft upper lip, Conductive hearing impairment, Coronal craniosynostosis [fdna.health]

• Corneal Opacity

  […] clouding, corneal opacities, fibrous dysplasia of the cornea, progressive retinal degeneration, optic atrophy, strabismus, decreased electroretinogram Neuronal ceroid-lipofuscinosis (256730) Progressive visual loss, optic atrophy, retinal degeneration [clinicalgate.com]

  In addition, a developmental defect of the anterior segment of the eye leading to corneal stromal opacities, and limitation of upward gaze is present in affected individuals. [cags.org.ae]

  Corneal opacity MedGen UID: 40485 •Concept ID: C0010038 • Finding A reduction of corneal clarity. [ncbi.nlm.nih.gov]

• 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 [Fig. 3a–c]. The features of Michels syndrome. [ncbi.nlm.nih.gov]

  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]

• Short Fifth Finger

  Michels syndrome is characterized by blepharoptosis, blepharophimosis, epicanthus inversus, an anterior chamber defect, and a short fifth finger [5]. In 3MC patients, an autosomal recessive inheritance pattern was observed. [cureus.com]

• Large Anterior Fontanels

  At birth she was noted to have a large anterior fontanelle, downslanting palpebral fissures, bilateral corneal clouding, and small ears. Skeletal survey showed slender long bones, which were slightly osteopenic. [cags.org.ae]

  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. [ncbi.nlm.nih.gov]

  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]

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]

Treatment Treatment Options: No effective general treatment has been reported. [disorders.eyes.arizona.edu]

Management and treatment Early surgical repair is provided for craniosynostosis, cleft lip/palate, caudal appendage. [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]

Prognosis Prognosis is linked to visceral malformations, growth restriction and intellectual disability. * European Reference Network The documents contained in this web site are presented for information purposes only. [orpha.net]

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

/medlineplus.gov/genetics/condition/3mc-syndrome From HPO Cryptorchidism MedGen UID: 8192 •Concept ID: C0010417 • Congenital Abnormality Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology [ncbi.nlm.nih.gov]

Together, these findings demonstrate a role for complement pathway factors in fundamental developmental processes and in the etiology of 3MC syndrome. [nature.com]

Intellectual disability/developmental delay (ID/DD) is considered as a component of the syndrome; however, the incidence is variable according to the underlying molecular etiology. [karger.com]

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]

Summary Epidemiology Prevalence data is limited. To date less than 35 cases have been reported in the literature worldwide. [orpha.net]

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]

Division of Biological Sciences, University of California, San Diego, La Jolla, California. d Department of Mathematics and Computer Science, University of Bremen, Bremen, Alemania. e Department of Biostatistics, Epidemiology, Biostatistics and Prevention [jacc.elsevier.es]

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]

Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎ [books.google.es]

Avoid acute correction of knee flexion deformity to prevent serious complications [8]. Thus, progressive correction of deformity will help to minimize complications [9]. [cureus.com]

Division of Biological Sciences, University of California, San Diego, La Jolla, California. d Department of Mathematics and Computer Science, University of Bremen, Bremen, Alemania. e Department of Biostatistics, Epidemiology, Biostatistics and Prevention [jacc.elsevier.es]

[…] 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]