There are many physicians who do not have a desk computer or do not History feel at ease in using one. [books.google.com]

In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

Login to MyLGHealth Health Care Professionals Close I Want To Access Employee Resources Apply to a Residency Program Search Career Opportunities For Physicians About the Medical Staff Office Continuing Medical Education Progress Notes Journal of LGH Physician [lancastergeneralhealth.org]

Darnall Army Medical Center, Fort Hood, Texas Am Fam Physician. 2015 Oct 15;92(8):705-717. Patient information : See related handout on gastroesophageal reflux in infants and children, written by the authors of this article. [aafp.org]

Proc Assoc Am Physicians. 1997 Sep. 109(5):478-82. [Medline]. Weber A, Wienker TF, Jung M. Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Hum Mol Genet. 1996 Dec. 5(12):2061-6. [Medline]. [emedicine.medscape.com]

By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. [books.google.com]

Gazarian M, Cowell CT, Bonney M, G Rigor WG. The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities. Eur J Pediatr 1995;154:18-23. 7. Chu ME, Berlin D, Axelrod FB. [jfcmonline.com]

These features are not seen in unaffected siblings. [9] Microcephaly is associated frequently with this disorder, but whether this is a primary manifestation or simply a reflection of recurrent hypoglycemia and/or malnutrition is unclear. [emedicine.medscape.com]

Sometimes it is accompanied by malnutrition or respiratory symptoms, and complicated by esophagitis because of retained esophageal food [3]. [bioline.org.br]

Showing of 12 80%-99% of people have these symptoms Abnormal dermatoglyphics Abnormal fingerprints 0007477 Achalasia 0002571 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Intellectual [rarediseases.info.nih.gov]

All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information. [books.google.com]

[…] definitionAchalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration [malacards.org]

[…] microcephaly syndrome is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration [rarediseases.info.nih.gov]

[…] antibody level in blood Cutaneous photosensitivity Intellectual disability, profound Dandy-Walker malformation Chronic diarrhea Brittle hair Cutis marmorata Global brain atrophy Reduced subcutaneous adipose tissue Hypopituitarism Pseudobulbar signs Aspiration [mendelian.co]

Paralyzed Diaphragm Pericardial Disease Pleura Cancer Pleural Cancer Pulmonary Disease Pulmonary Embolism Septal Defect Thrombosis Thymomas Vascular Disease Less 61 Procedures Ablation for Treatment of Cardiac Arrhythmias Abscess or Cyst Drainage or Aspiration [healthgrades.com]

Abnormal findings on respiratory examination may be secondary to recurrent aspiration accompanying achalasia. Skin examination of patients may reveal abnormal findings that assist in confirming diagnosis. [emedicine.medscape.com]

Number: 929Disease definitionAchalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting [malacards.org]

ACHALASIA-MICROCEPHALY SYNDROME Definition: An autosomal recessive disease that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting [zfin.org]

Disease definition Achalasia- microcephaly syndrome is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting [rarediseases.info.nih.gov]

Heartburn in children Chest pain, epigastric pain, nonlocalized abdominal pain Regurgitation and/or vomiting beyond 18 months of age Bilious vomiting Persistent, forceful vomiting Onset of vomiting after six months of age Gastrointestinal bleeding Persistent [aafp.org]

Here we report of the case of a patient who developed achalasia, as a complication of BN, because of chronic and repetitive self-induced vomiting episodes. Surgical treatment for achalasia of the esophagus: Laparoscopic heller myotomy. [freethesaurus.com]

vomiting and respiratory infections). ( 3 ) References: GARD:456 MESH:C536010 OMIM:200450 UMLS_CUI:C1860212 Ontology: Human Disease ( DOID:0050796 ) OTHER achalasia microcephaly syndrome PAGES GENES INVOLVED No data available ZEBRAFISH MODELS No data [zfin.org]

vomiting and respiratory infections). [malacards.org]

The death of the younger sibling of our patient at the age of 1 year was possibly due to adrenal insufficiency as he had presented with recurrent vomiting and shock. [synapse.koreamed.org]

Less frequently, a child may be evaluated initially for recurrent vomiting, dysphagia, and failure to thrive (achalasia) or for ocular symptoms associated with alacrima. [emedicine.medscape.com]

vomiting Heartburn in children Chest pain, epigastric pain, nonlocalized abdominal pain Regurgitation and/or vomiting beyond 18 months of age Bilious vomiting Persistent, forceful vomiting Onset of vomiting after six months of age Gastrointestinal bleeding [aafp.org]

cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. [mendelian.co]

Oral features include a small oral cavity, thin upper lip border, prominent philtrum, narrow and deep palate, palatine cleft, submucosal palatine cleft, split uvula, micrognathia, prognathism and retrognathism [ 1, 2 ] In 1990, velopharyngeal insufficiency [jmedicalcasereports.biomedcentral.com]

Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Intellectual disability-obesity-prognathism-eye [se-atlas.de]

Monitoring System AMS Albany Middle School (California) AMS Academy of Medicine Singapore AMS Acquisition Mission Support AMS Arlington Middle School AMS Air Missile System AMS Ambler Main Street (Ambler, PA) AMS Automatic Music Search AMS Ablepharon-Macrostomia [acronyms.thefreedictionary.com]

Read More ESTUDANDORARAS relatorios-orphanet-prevalencia-das-doencas-raras-dados-bibliograficos 3-metilcrotonilglicinúria 2,25 Abcessos asséticos cortico-sensíveis 49 casos Abléfaro - macrostomia, sindrome 15 casos Acalásia esofágica familiar 10 Acalasia [inspire.com]

Ablepharon macrostomia syndrome[?] Ablutophobia Abnormal systemic venous return[?] Abruzzo Erickson syndrome[?] Absence of Gluteal muscle[?] Absence of tibia with polydactyly[?] Absent corpus callosum cataract immunodeficiency[?] [encyclopedia.kids.net.au]

[ more ] 0000448 5%-29% of people have these symptoms Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Macrotia Large ears 0000400 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 1%-4% of people have these symptoms Esotropia [rarediseases.info.nih.gov]

[…] more ] 0000252 Prominent nose Big nose Disproportionately large nose Increased nasal size Increased size of nose Large nose Pronounced nose [ more ] 0000448 5%-29% of people have these symptoms Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Macrotia [rarediseases.info.nih.gov]

Paraplegia Deep philtrum Retinal detachment Wide nose Microcornea Sleep disturbance Full cheeks Broad nasal tip Thick lower lip vermilion Bilateral sensorineural hearing impairment Sloping forehead Lymphedema Overgrowth Pointed chin Patent foramen ovale Macrotia [mendelian.co]

ears 0000400 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 1%-4% of people have these symptoms Esotropia Inward turning cross eyed 0000565 Percent of people who have these symptoms is not available through HPO Autosomal recessive [rarediseases.info.nih.gov]

head circumference [ more ] 0000252 Prominent nose Big nose Disproportionately large nose Increased nasal size Increased size of nose Large nose Pronounced nose [ more ] 0000448 5%-29% of people have these symptoms Epicanthus Eye folds Prominent eye [rarediseases.info.nih.gov]

Achalasia Microcephaly A very rare syndrome characterized primarily by a small head and achalasia which involves esophageal problems such as enlargement. [mt911.com]

When we examined our patient, we found a number of clinical anomalies, including a small head, frontal bossing, low-set ears, saddle nose, triangular face, and the characteristic facial features of DS such as palpebral ptosis, hypertelorism and micrognathia [jmedicalcasereports.biomedcentral.com]

Analysis of 1 1 kindreds and linkage to the short arm of chromosome 2. J Clin Invest 1996:97: 699-705. ‏ [books.google.com]

Mental Status AMS Academic Management Services AMS Aggregate Measure of Support AMS Australasian Menopause Society (est. 1988) AMS Access Method Services AMS Advanced Medical Solutions (UK) AMS Aboriginal Medical Service (Australia) AMS Advanced Monitoring [acronyms.thefreedictionary.com]

Review the latest developments in the field and get up-to-date clinical information on hot topics like polyps, capsule endoscopy, and pancreatic treatments. [books.google.com]