Short stature, mild mental retardation, and cryptorchidism present in both patients. Anesthesia in these patients has not been described. The presence of a narrow, arched palate may make tracheal intubation difficult. [accessanesthesiology.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]

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]

• Chronic Fatigue Syndrome

  […] pneumonia), 만성 피로 증후군 (Chronic fatigue syndrome), 만성 염증성 탈수초성 다발신경병증 (Chronic inflammatory demyelinating polyneuropathy), 만성 골수증식성 질환 (Chronic myeloproliferative disease), 만성호중구성백혈병 (Chronic neutrophilic leukaemia), 진통제 투여를 요하는 만성 통증 (Chronic pain requiring [yumpu.com]

• Unilateral Ptosis

  ±ptosis Prevention - Ptosis strabismus diastasis Not supplied. [checkorphan.org]

• Depressed Nasal Bridge

  Facial features include depressed nasal bridge, hypertelorism, blepharophimosis, blepharoptosis, and paresis of ocular muscles with strabismus. The ears are low set with a folded helix, and the external auditory canal may be atretic or absent. [accessanesthesiology.mhmedical.com]

• Paresis

  Facial features include depressed nasal bridge, hypertelorism, blepharophimosis, blepharoptosis, and paresis of ocular muscles with strabismus. The ears are low set with a folded helix, and the external auditory canal may be atretic or absent. [accessanesthesiology.mhmedical.com]

  CLN10 disease congenital neutropenia, see severe congenital neutropenia congenital nonbullous ichthyosiform erythroderma, see nonbullous congenital ichthyosiform erythroderma congenital ocular coloboma, see coloboma congenital ophthalmoplegia and facial paresis [herenciageneticayenfermedad.blogspot.com]

Treatment - Ptosis strabismus diastasis * Ophthalmologic consultation * Transient infantile esotropia –Self-limiting * Congenital esotropia –Surgical correction before age 2 * Retinoblastoma and other tumors –Oncologic evaluation and treatment o Hydrocephalus [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]

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

[…] 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]

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]

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]