Short stature, mild mental retardation (one patient had slight dilatation of the lateral ventricles and a widened interhemispheric fissure secondary to mild atrophy) were present in both patients, and one had cryptorchidism. [accesspediatrics.mhmedical.com]

Ptosis-strabismus-rectus abdominis diastasis syndrome Prevalence: - Inheritance: - Age of onset: - ICD-10: - OMIM: 265050 UMLS: C0796279 MeSH: - GARD: 1118 MedDRA: - Summary This disease has been moved to 3MC syndrome The documents contained in this web site are presented [orpha.net]

Acronym 3MC2 Synonyms Carnevale Krajewska Fischetto syndrome Carnevale syndrome Oculo-skeletal-abdominal syndrome OSA syndrome Ptosis of eyelids with diastasis recti and hip dysplasia Any medical or genetic information present in this entry is provided [uniprot.org]

• Developmental Delay

  TY - JOUR T1 - Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs. [unboundmedicine.com]

  Reference Carnevale F, Krajewska G, Fischetto R, et al: Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs. Am J Med Genet 33:186–189, 1989. [PubMed: 2569826] [accesspediatrics.mhmedical.com]

  Overview A rare genetic disorder characterized by drooping eyelids, hip problems, undescended testes and developmental delay. [checkorphan.org]

• Fatigue

  크리스챤-로젠버그 증후군 (Christian-Rosenberg syndrome), 크리스찬슨 증후군 (Christianson syndrome), 크리스찬슨-푸리에 증후군 (Christianson-Fourie syndrome), 크리스마스 트리 증후 군 (Christmas tree syndrome), 색소진균증 (Chromomycosis), 만성 호산구성 폐렴 (Chronic eosinophilic pneumonia), 만성 피로 증후군 (Chronic fatigue [yumpu.com]

• Vomiting

  […] syndrome cyclic hematopoesis, see cyclic neutropenia cyclic leucopenia, see cyclic neutropenia cyclic neutropenia cyclic vomiting syndrome cyclical vomiting, see cyclic vomiting syndrome cyclical vomiting syndrome, see cyclic vomiting syndrome cylindromatosis [herenciageneticayenfermedad.blogspot.com]

• Nausea

  Symptoms of uneasiness may include: Muscle aches Shakes Palpitations Barren mouth Nausea Vomiting Diarrhea Bright flashes Chills Polyuria Insomnia Painfulness swallowing DSM-5 has made changes in some disor- ders that were on one occasion categorized [ddna.org]

• Blepharoptosis

  The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. [malacards.org]

  Michels Syndrome: A Case Report from Turkey and Review of Literature Öz: A 4-year and 7 month-old boy was admitted to our facility with the complaints of blepharophimosis, blepharoptosis, and epicanthus inversus in association with hypertelorism, cleftpalate [search.trdizin.gov.tr]

  Facial features include depressed nasal bridge, hypertelorism, blepharophimosis, blepharoptosis, hypertelorism, downslanting of the palpebral fissures, and paresis of ocular muscles with strabismus. [accesspediatrics.mhmedical.com]

• Esotropia

  In the first 4 months of life, esotropia may transiently occur in normal children * Congenital esotropia –Pronounced medial deviation of one eye in the first year of life –Occurs in otherwise healthy infants * Retinoblastoma –Frequent early finding [checkorphan.org]

  Asymmetry, Strabismus, and Transverse Earlobe Crease Developmental Dysplasia of the Hip 1 Developmental Dysplasia of the Hip 2 Disproportionate Short Stature with Ptosis and Valvular Heart Lesions Duane retraction syndrome + Dwarfism Tall Vertebrae esotropia [rgd.mcw.edu]

  [55] Blaichman syndrome [56] Blepharo cheilo dontic syndrome aka BCD syndrome, Blepharocheilodontic syndrome Elschnig syndrome [57], [58] Blepharo facio skeletal syndrome [59] Blepharophimosis nasal groove growth retardation Blepharophimosis ptosis esotropia [en.wikipedia.org]

  […] equine, ercole, erdheim-chester, ermine, erosive, eruption, erythema, erythematosus, erythermalgia, erythroblastic, erythroblastopenia, erythrocyte, erythroderma, erythrokeratodermia, erythromelalgia, erythropoietic, esophageal, esophagitis, esophagus, esotropia [rapsodyonline.eurordis.org]

• Prolapse

  Cardiomyopathy with myopathy due ad FEVR LFS1 pigmentary defects hormone deficiency to COX deficency Exudative vitreoretinopathy 1 familial autosomal dominant Li Fraumeni syndrome Terminal osseous dysplasia type 1B Usher syndrome cardiopathy Mitral valve prolapse [yumpu.com]

  […] preexcitation, preeyasombat-varavithya, pregnancy, preis, prekallikrein, premature, prematurity, presenile, preus, primary, primordial, pro-opiomelanocortin, procedures, proctitis, progeroid, prognathism, progrediens, progressiva, progressive, prohormone, prolapse [rapsodyonline.eurordis.org]

• Suggestibility

  Consanguinity in their parents suggests autosomal recessive inheritance. [unboundmedicine.com]

  Genetic inheritance The two brothers described had consanguineous parents; hence autosomal recessive inheritance has been suggested. The karyotype was normal in both patients. Diagnosis Based on the clinical findings. [accesspediatrics.mhmedical.com]

  For these reasons, expand-ing Halls proposal, we suggest that the four entities better fitwith a single recessive spectrum than as separate disorders.We suggest referring to this clinical spectrum as 3MCsyndrome (for Malpuech-Michels-Mingarelli-Carnevale [documents.tips]

• Cryptorchidism

  TY - JOUR T1 - Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs. [unboundmedicine.com]

  Reference Carnevale F, Krajewska G, Fischetto R, et al: Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs. Am J Med Genet 33:186–189, 1989. [PubMed: 2569826] [accesspediatrics.mhmedical.com]

  Disease relevance of Hip Dislocation We report a distinct syndrome of eyelid ptosis, convergent strabismus, abdominal muscle defect, hip dislocation, cryptorchidism and developmental delay in two brothers [1]. [wikigenes.org]

• Seizure

  […] sclerodactyly, scleroderma, sclerosing, sclerosis, sclerosis-parkinsonism-dementia, sclerosus, scoliosis, scot, scott, scrotal, scrotum, scrub, sebaceous, sebocystomatosis, seckel, secreting, secretion, seemanova, segment, segmental, segmentation, seip, seizures [rapsodyonline.eurordis.org]

Treatment * Ophthalmologic consultation * Transient infantile esotropia –Self-limiting * Congenital esotropia –Surgical correction before age 2 * Retinoblastoma and other tumors –Oncologic evaluation and treatment o Hydrocephalus –May or may not correct [checkorphan.org]

Experiences in diagnosis and treatment of hip dislocation and dysplasia in populations screened by the ultrasound method of Graf [7]. [wikigenes.org]

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]

Prognosis - Ptosis strabismus diastasis Not supplied. [checkorphan.org]

Congenital esotropia –Pronounced medial deviation of one eye in the first year of life –Occurs in otherwise healthy infants * Retinoblastoma –Frequent early finding in retinoblastoma –May be due to visual impairment or space- occupying lesion + CNS etiologies [checkorphan.org]

The etiological causes of 3MC1 are still unknown. Anahtar Kelime: [search.trdizin.gov.tr]

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

Relevant External Links for COLEC11 Genetic Association Database (GAD) COLEC11 Human Genome Epidemiology (HuGE) Navigator COLEC11 Atlas of Genetics and Cytogenetics in Oncology and Haematology: COLEC11 No data available for Genatlas for COLEC11 Gene Mutations [genecards.org]

Fallible gastric carcinogenesis: a multistep and multifactorial system First American Cancer Brotherhood Grant harangue on cancer epidemiology and preven tion. [sarcomacancer.org]

However, elevated CL-K1 plasma levels have been associated with the presence of disseminated intravascular coagulation (DIC), suggesting a possible pathophysiological role for CL-K1 in uncontrolled clotting and bleeding [ 18 ]. [journals.plos.org]

Swiss medical weekly : official journal of the Swiss Society of Infectious Diseases, the Swiss Society of Internal Medicine, the Swiss Society of Pneumology. (2003) [ Pubmed ] Prevention of congenital dislocation of the hip. [wikigenes.org]

[…] esotropic * Idiopathic childhood exotropia –May be alternating, or may be secondary to visual discrepancy and favored use of the better eye –The eye that is not fixed on an object is exotropic * Congenital CN III palsy –Familial, usually unilateral, ±ptosis Prevention [checkorphan.org]

To inspire refuge finished with prevention of accident, wound, or other trauma and because of banning of the spread of infection 4. This is shown by way of the reduction in percent diameter-change from pre- to post-ACh challenge. [sarcomacancer.org]