Presentation
Distinctive bilateral polydactyly, and overlapping plates of the skull were present, although some had no strain in your internal organs, and other alone strains the lungs. Hydrocephalus and infants were present in all. [amp.en.google-info.in]
Symptoms - Yim Ebbin syndrome Causes - Yim Ebbin syndrome Limb deficiency and holoprosencephaly are present in a number of syndromes (e.g. Steinfeld syndrom e) which are known to be caused by gross chromosomal abnormalities. [checkorphan.org]
In addition, an interrupted aortic arch, a muscular ventricular septal defect, and localized noncompaction of the septal myocardium were present. [tandfonline.com]
Antley–Bixler syndrome presents itself at birth or prenatally. Wikipedia Rare autosomal recessive disorder characterized by severe intrauterine growth restriction and multiple congenital malformations. [frankensaurus.com]
Knobloch syndrome Knobloch syndrome is a rare genetic disorder presenting severe eyesight problems and often a defect in the skull. [howlingpixel.com]
Entire Body System
- Short Stature
Stature with Ptosis and Valvular Heart Lesions Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia Hereditary Macular Coloboma Hittner Hirsch Kreh Syndrome Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type [rgd.mcw.edu]
Acrofrontofacionasal dysostosis Acrofrontofacionasal dysostosis is an extremely rare disorder, characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip / palate, postaxial camptobrachypolysyndactyly, fibular [wordsimilarity.com]
stature and fibular hypoplasia Gay Feinmesser Cohen syndrome Lipoic acid synthetase deficiency Saito Kuba Tsuruta syndrome PARC syndrome Bone dysplasia lethal Holmgren type Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome [checkrare.com]
Gastrointestinal
- Vomiting
Upset stomach and vomiting in pregnancy. Some research suggests that taking vitamin B6, usually as pyridoxine, improves symptoms of mild to moderate nausea and vomiting during pregnancy. [webmd.com]
Effects of ginger capsules on pregnancy, nausea, and vomiting. J Altern Complement Med 2009;15:243-246. View abstract. Ensiyeh, J. and Sakineh, M. A. [medlineplus.gov]
Ebola, which has killed almost 9,000 people across Guinea, Liberia and Sierra Leone, initially causes fever and vomiting, then attacks the immune system and vital organs, often causing internal and external bleeding. [dnaindia.com]
Most of those affected develop hydrocephalus within the first year of life, which can present as increasing head size, vomiting, excessive sleepiness, irritability, downward deviation of the eyes and seizures. [frankensaurus.com]
9 of the 12 most dangerous and persistent chemicals are pesticides.http://www.pops.int/documents/pops/default.htm Acute effects Acute health problems may occur in workers that handle pesticides, such as abdominal pain, dizziness, headaches, nausea, vomiting [findzebra.com]
- Nausea
[…] daily as an FDA-approved prescription product for nausea during pregnancy. [webmd.com]
Effects of ginger capsules on pregnancy, nausea, and vomiting. J Altern Complement Med 2009;15:243-246. View abstract. Ensiyeh, J. and Sakineh, M. A. [medlineplus.gov]
Her face is bloated from the steroids she has to take to prevent nausea. I hug her and we start crying. She is on the point of collapse, and I can feel her frail, tired sick body falling apart. [dailymail.co.uk]
Pollutants, 9 of the 12 most dangerous and persistent chemicals are pesticides.http://www.pops.int/documents/pops/default.htm Acute effects Acute health problems may occur in workers that handle pesticides, such as abdominal pain, dizziness, headaches, nausea [findzebra.com]
Table 2 DRAEs with incidence ≥5 % observed in patients from KEYNOTE-001 and KEYNOTE-006 Fatigue 36 19 21 19 Pruritus 24 11 14 14 Rash 20 10 15 13 Arthralgia 16 9 9 12 Diarrhea 16 8 17 14 Nausea 12 8 10 11 Vitiligo 11 NR 9 11 Asthenia 9 5 12 11 Cough 9 [jitc.biomedcentral.com]
- Failure to Thrive
Wikipedia Rare neurological disorder seen in infants and children and characterised by failure to thrive and severe emaciation despite normal or slightly decreased caloric intake. Also locomotor hyperactivity and euphoria. [frankensaurus.com]
Am J Dis Child. 1969;118(4):559-564. doi:10.1001/archpedi.1969.02100040561003 Failure to Thrive and Fatal Injury as a Continuum Bertram S. [jamanetwork.com]
[…] to thrive-kyphoscoliosis Auriculoosteodysplasia Aplasia cutis congenita of limbs recessive Epidermolysis bullosa simplex, Dowling-Meara type Waardenburg syndrome type 3 Antecubital pterygium Osteoporosis-pseudoglioma syndrome Hypomelanosis of Ito Porokeratosis [checkrare.com]
Psychiatrical
- Suggestibility
Although some early research suggests that taking vitamin B6 as pyridoxine might relieve certain symptoms of carpal tunnel syndrome, most research suggests that this supplement does not benefit people with this condition. Cataracts. [webmd.com]
In 1996, a third case was reported by Froster et al. who suggested that the three cases were related and represented a distinct syndrome. In 2000, a similar case was reported by Pierri et al. [findzebra.com]
In 1996, a third case was reported by Froster et al. who suggested that the three cases were related and represente... Found on http://en.wikipedia.org/wiki/Yim–Ebbin_syndrome No exact match found. [encyclo.co.uk]
Neurologic
- Confusion
Plasmodium falciparum [Supplementary Concept] an integral membrane protein that binds a 35-kDa erythrocyte skeletal protein; may help bind Maurer's clefts to erythrocyte submembrane skeleton; isolated from Plasmodium falciparum; GenBank AJ387723; do not confuse [ncbi.nlm.nih.gov]
In 1991, with the publication in the journal of medical genetics group of eight physicians, based on the five-patient case study, argued that trisomy 13 and young–Madders syndrome were two clear conditions and renamed the disorder, to avoid confusion. [amp.en.google-info.in]
Julia Ross told the case manager that her daughter “lies, causes confusion, is inappropriate behaving with men, contacts neighbors relentlessly, and is obsessed with others who are nice to her,” according to a report filed with the court. [japantimes.co.jp]
Pharmacology Corner Prescribing medications to dominate delirium symptoms is perilous because these medications can disguise or merger the confusion and ferment. [nhha.org]
We hope that this consensus document reduces confusion by recommending to judges and jurors the tools necessary to distinguish genuine evidence-based opinions of the relevant medical community from legal arguments or etiological speculations that are [ijipls.com]
Treatment
The complications of Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome may include: Heart malfunction Kidney malfunction Brain malfunction Inability to survive Complications may occur with or without treatment, and in some cases, due to treatment [dovemed.com]
Eighty-two percent of patients in each arm experienced a treatment-related AE; the occurrence of treatment-related grade 3/4 toxicities was 12 % overall, with only 5 % reporting a serious treatment-related AE. [jitc.biomedcentral.com]
Safety and efficacy of high-dose vitamin B6 as an adjunctive treatment for antipsychotic-induced hyperprolactinemia in male patients with treatment-resistant schizophrenia. Front Psychiatry 2021;12:681418. View abstract. [medlineplus.gov]
Hong L, Wu Q, Lin Y, Xie M, Fan R, Wang Z, Zhou J, Zhong J Patient Preference and Adherence 2017, 11:1755-1766 Published Date: 16 October 2017 Original Research Healthcare provider relational quality is associated with better self-management and less treatment [dovepress.com]
Treatment - Yim Ebbin syndrome Not supplied. Resources - Yim Ebbin syndrome See Research Publications [checkorphan.org]
Prognosis
[…] limbs) cleft lip, and forebrain defects such as holoprosencephaly.[2][3] Approximately five cases of this disorder have been described in medical literature.[4] Brachial amelia, cleft lip, and holoprosencephaly Specialty Medical genetics Prevention none Prognosis [wikiwand.com]
Brachial amelia, cleft lip, and holoprosencephaly Specialty Medical genetics Prevention none Prognosis varies Frequency very rare, only 5 cases have been reported in medical literature Brachial amelia, cleft lip, and holoprosencephaly, or Yim–Ebbin syndrome [en.wikipedia.org]
Prognosis - Yim Ebbin syndrome Many infants with this condition do not survive beyond a few months, however, one reported case of an infant with a similar combination of malformations was reported to have survived beyond 14 months. [checkorphan.org]
(Outcomes/Resolutions) The prognosis of Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome is poor since the probability of survival of the fetus/neonate is generally low. [dovemed.com]
Etiology
The finding of ARHGAP29's role in craniofacial development was discovered after the adjacent ABCA4 gene lacked functional or expression data to support it as the etiologic gene for nonsydromic cleft lip / palate even though SNPs in the ABCA4 gene were [wordsimilarity.com]
MeSH Qualifier] diagnostic imaging [MeSH Qualifier] diet therapy [MeSH Qualifier] drug therapy [MeSH Qualifier] economics [MeSH Qualifier] embryology [MeSH Qualifier] enzymology [MeSH Qualifier] epidemiology [MeSH Qualifier] ethnology [MeSH Qualifier] etiology [cismef.org]
In the case of asbestos-related diseases, the etiology is known?without asbestos exposure there is no asbestos-related disease. Uncontrolled exsanguinating haemorrhage accounts for another 50 % or so of deaths. [ijipls.com]
Epidemiology
It reviews the epidemiology, genetic association, clinical features and management of tumours in the newborn. Although emphasis is placed on the common tumours, the book covers the entire spectrum including many of the rarer tumour types. [link.springer.com]
As for spirit disease, Trowell accommodated Keys’s logic: if the material epidemiology advisable that a low-fat, high-carbohydrate dieting stormproof against spirit disease, so carbohydrates manifestly protect against spirit disease, with the serious [morganhowardproductions.com]
MeSH Qualifier] congenital [MeSH Qualifier] diagnosis [MeSH Qualifier] diagnostic imaging [MeSH Qualifier] diet therapy [MeSH Qualifier] drug therapy [MeSH Qualifier] economics [MeSH Qualifier] embryology [MeSH Qualifier] enzymology [MeSH Qualifier] epidemiology [cismef.org]
Worldwide epidemiology of atrial fibrillation: a global burden of disease 2010 study. Circulation. 2014 ; 129:837–847. Link Google Scholar 3 Rienstra M, McManus DD, Benjamin EJ. [ahajournals.org]
Epidemiology Encephaloceles occur rarely, at a rate of one per 5,000 live births worldwide. [howlingpixel.com]
Pathophysiology
Kas View Full Text View PDF Content type: Research Diffusional kurtosis imaging of the corpus callosum in autism The corpus callosum is implicated in the pathophysiology of autism spectrum disorder (ASD). [molecularautism.biomedcentral.com]
P.Autonomic hyperreflexia: pathophysiology and medical management. Arch. Phys. Med. Rehabil. 1980; 61: 431–40.Google Scholar McGregor, J. A. & Meeuwsen, J.Autonomic hyperreflexia: a mortal danger for spinal cord-damaged women in labor. Am. J. [cambridge.org]
Prevention
Preventing re-blockage of blood vessels after angioplasty. Evidence on the benefits of vitamin B6 for preventing the re-blockage of blood vessels after angioplasty is inconsistent. [webmd.com]
Currently, Amelia Cleft Lip Palate Hydrocephalus Iris Coloboma Syndrome may not be preventable, since it is a developmental disorder of the fetus Active research is currently being performed to explore the possibilities for treatment and prevention of [dovemed.com]
[…] affecting the upper limbs) cleft lip, and forebrain defects such as holoprosencephaly.[2][3] Approximately five cases of this disorder have been described in medical literature.[4] Brachial amelia, cleft lip, and holoprosencephaly Specialty Medical genetics Prevention [wikiwand.com]
Aspirochlorine is an unusual antifungal cyclopeptide produced by Aspergillus oryzae, an important mold used for food fermentation… The increasingly widespread phenomenon of children sexual abuse lead to intervention and prevention efforts in overcome [semanticscholar.org]
Brachial amelia, cleft lip, and holoprosencephaly Specialty Medical genetics Prevention none Prognosis varies Frequency very rare, only 5 cases have been reported in medical literature Brachial amelia, cleft lip, and holoprosencephaly, or Yim–Ebbin syndrome [en.wikipedia.org]