Presentation
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]
Entire Body System
- Lymphedema
[…] anemia congenital external ophthalmoplegia, see congenital fibrosis of the extraocular muscles congenital facial diplegia, see Moebius syndrome congenital failure of autonomic control, see congenital central hypoventilation syndrome congenital familial lymphedema [herenciageneticayenfermedad.blogspot.com]
Jaw & Teeth
- Cheilitis
빈맥 (Chaotic atrial tachycardia), 샤르 더글라 스 던간 증후군 (Char douglas dungan syndrome), 샤르 증후군 (Char syndrome), CHARGE 증후군 (Charge syndrome), 샬레보익스 병 (Charlevoix disease), 찰리 m 증후군 (Charlie m syndrome), 세디아크-히가시 유사 증후군 (Chediak-Higashi like syndrome), 샘입술염 (Cheilitis [yumpu.com]
[…] cervical, cervicooculoacoustic, cfc, chahine, chain, chang-davidson-carlson, changes, channel, channelopathy-associated, chaotic, chapelle, char, characteristic, charcot-marie-tooth, charge, charlevoix-saguenay, charlie, chat, chavany, chediak-higashi, cheilitis [rapsodyonline.eurordis.org]
Eyes
- Night Blindness
[…] cryptophthalmos with other malformations, see Fraser syndrome CS, see Cockayne syndrome CS, see Cowden syndrome CSCD, see congenital stromal corneal dystrophy CSID, see congenital sucrase-isomaltase deficiency CSNBAD, see autosomal dominant congenital stationary night [herenciageneticayenfermedad.blogspot.com]
[…] cryptophthalmos with other malformations, see Fraser syndrome CS, see Cowden syndrome CS, see Cockayne syndrome CSCD, see congenital stromal corneal dystrophy CSID, see congenital sucrase-isomaltase deficiency CSNBAD, see autosomal dominant congenital stationary night [mygenomics.com]
Skin
- Hyperkeratosis
[…] hyperbilirubinemia, hypercalcemia, hypercalciuria, hypercholesterolemia, hypercoagulability, hyperdibasic, hyperekplexia, hypereosinophilic, hypergonadotropic, hyperimidodipeptiduria, hyperimmunization, hyperinsulinemic, hyperinsulinism-hyperammonemia, hyperkeratosis [rapsodyonline.eurordis.org]
Treatment
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
Prognosis - Ptosis strabismus diastasis Not supplied. [checkorphan.org]
Etiology
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]
Epidemiology
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]
Pathophysiology
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]
Prevention
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]