Presentation
[…] level: Disorder Synonym(s): Lubani-Al Saleh-Teebi syndrome Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Infancy ICD-10: - OMIM: 219721 UMLS: C2931402 MeSH: - GARD: 3303 MedDRA: - The documents contained in this web site are presented [orpha.net]
Lemierres Syndrome Presenting as Multifocal Pyomyositis in a Young Child. / Held, Melissa R.; Kotler, Hannah; Sneller, Hannah ... Lemierres Syndrome Presenting as Multifocal Pyomyositis in a Young Child. [lookformedical.com]
Intellectual disability may be present. There have been no further descriptions in the literature since 1970. [pubcasefinder.dbcls.jp]
[…] to complica the neonatal presentation (sixty two). [aspire-pharma.com]
Entire Body System
- Anemia
Megaloblastic Anemia, Subnormal Mentality and Minor Anomalies 19 Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Mental Retardation 39 Cystic Fibrosis Gastritis Megaloblastic Anemia 19 Characteristics: Inheritance: Cystic [malacards.org]
SNOMED CT code SNOMED code 720401009 name Cystic fibrosis with gastritis and megaloblastic anemia syndrome status active date introduced 2017-01-31 fully specified name(s) Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) synonyms [findacode.com]
[…] gastritis, folate-deficiency megaloblastic anemia and intellectual disabilities. [en.wikipedia.org]
Megaloblastic anemia Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts). Gastritis Stomach inflammation The presence of inflammation of the gastric mucous membrane. [rarediseases.oscar.ncsu.edu]
Synonyms Cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies Cystic fibrosis gastritis megaloblastic anemia Overview No overview is available at this time. [rarediseases.org]
- Disability
Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [rarediseases.oscar.ncsu.edu]
[…] anemia, and intellectual disability. [malacards.org]
85649008 Autosomal recessive hereditary disorder 85995004 hierarchies a selection of possible paths SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Mental disorder 74732009 Developmental mental disorder 129104009 Intellectual disability [findacode.com]
[…] rare disease Cystic fibrosis-gastritis-megaloblastic anemia syndrome Disease definition A rare genetic disease characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability [orpha.net]
- Recurrent Respiratory Infection
respiratory infections 58 30 Hallmark (90%) Very frequent (99-80%) HP:0002205 6 wide nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%) HP:0000431 7 deeply set eye 58 30 Hallmark (90%) Very frequent (99-80%) HP:0000490 8 telecanthus 58 30 Hallmark [malacards.org]
Gastrointestinal
- Diarrhea
Very frequent (99-80%) HP:0002205 6 wide nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%) HP:0000431 7 deeply set eye 58 30 Hallmark (90%) Very frequent (99-80%) HP:0000490 8 telecanthus 58 30 Hallmark (90%) Very frequent (99-80%) HP:0000506 9 diarrhea [malacards.org]
Microcephaly Sparse or absent eyelashes Tapered finger Sporadic Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea [pubcasefinder.dbcls.jp]
Ears
- Macrotia
Frequency HPO Source Accession 1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%) HP:0001249 2 frontal bossing 58 30 Hallmark (90%) Very frequent (99-80%) HP:0002007 3 hypertelorism 58 30 Hallmark (90%) Very frequent (99-80%) HP:0000316 4 macrotia [malacards.org]
Psychiatrical
- Suggestibility
Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]
Frequent lung infections, hemoptysis, intolerance to exercise, presence of clubbing fingers suggesting pulmonary hypertension, rectal prolapse, and nasal polyps. [accessanesthesiology.mhmedical.com]
In the late 20th century, Christian theologians suggested abandoning the term 'Old Testament' because it sounded derogatory and speaking instead of the 'First Testament'. Among these theologians were Erich Zenger and JA Sanders. [bibleous.com]
On the opposite hand, as lengthy Asch�s fears have come true, and the degree as in-utero interventions stay relatively to which their suggestions for providing uncommon, and so long as the number of people genetic counseling that takes fuller account [aspire-pharma.com]
[…] characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive [pubcasefinder.dbcls.jp]
Face, Head & Neck
- Hypertelorism
hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. [pubcasefinder.dbcls.jp]
Teebi type of hypertelorism (1987) •• Teebi Shaltout syndrome (1989) •• Al Gazali syndrome (1994) List of diseases (T) Tay–Sachs disease T-cell lymphoma Teebi–Kaurah syndrome Teebi–Naguib–Alawadi syndrome Teebi–Shaltout syndrome Teebi syndrome Teeth noneruption [thenamesdictionary.com]
Syndrome: 58 30 (show all 18) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%) HP:0001249 2 frontal bossing 58 30 Hallmark (90%) Very frequent (99-80%) HP:0002007 3 hypertelorism [malacards.org]
Other ndings could embrace tum extending onto philtrum, beaked nostril, heavy eyebrows; lengthy eyelashes; ptosis of eyelids; hypertelorism; nasolacrimal antimongloid slant of the eyes, and short philtrum. [aspire-pharma.com]
- Frontal Bossing
Affiliated tissues include eye, and related phenotypes are intellectual disability and frontal bossing Orphanet: 58 A rare genetic disease characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic [malacards.org]
Orphanet:873 Find images (Google) Find case reports Monarch GTR:C0079218 944 (63.4%) 20q11.2 microdeletion syndrome Adducted thumb Brachydactyly Frontal bossing Short philtrum A rare, genetic, syndromic intellectual disability characterized by psychomotor [pubcasefinder.dbcls.jp]
- Broad Nasal Bridge
hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. [pubcasefinder.dbcls.jp]
Workup
Sub types acute gastritis atrophic gastritis emphysematous gastritis phlegmonous gastritis Radiographic features CT While may not may be often needed for routine workup, gastritis may be seen as thickening of the gastric folds and wall. [pacs.de]
Microbiology
- Helicobacter Pylori
Lubani Al Saleh Teebi syndrome Other names Cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies, Cystic fibrosis gastritis megaloblastic anemia[1] Specialty Medical genetics Causes Genetic mutation [en.wikipedia.org]
Helicobacter pylori gastrointestinal tract infection 307759003 Megaloblastic anemia 53165003 Helicobacter-associated gastritis 89538001 Nutritional deficiency associated condition 363246002 Developmental mental disorder 129104009 Autosomal hereditary [findacode.com]
MalaCards integrated aliases for Lubani-Al Saleh-Teebi Syndrome: Name: Lubani-Al Saleh-Teebi Syndrome 39 58 Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome 58 28 5 Lubani Al Saleh Teebi Syndrome 19 75 71 Cystic Fibrosis, Helicobacter Pylori Gastritis [malacards.org]
Synonyms Cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies Cystic fibrosis gastritis megaloblastic anemia Overview No overview is available at this time. [rarediseases.org]
Homepage Rare diseases Search Search for a rare disease Cystic fibrosis-gastritis-megaloblastic anemia syndrome Disease definition A rare genetic disease characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency [orpha.net]
Colonoscopy
- Polyps
Frequent lung infections, hemoptysis, intolerance to exercise, presence of clubbing fingers suggesting pulmonary hypertension, rectal prolapse, and nasal polyps. [accessanesthesiology.mhmedical.com]
PMID Year 1 Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction. 5 32424176 2020 2 Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps [malacards.org]
Treatment
There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]
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]
Order pravachol 20mg with visa Surgical remedies, endoscopic remedies (p109) Surgical treatment must be considered for patients in whom solely limited therapeutic efcacy has been obtained regardless of totally sufficient medical treatment. [aspire-pharma.com]
Swelling regression was observed after one year of follow-up without any surgical treatment. Conclusion: This is a self-limiting condition and usually the treatment is not warranted. Regular follow-up is advised for the patient. [lookformedical.com]
Prognosis
Improvement in the prognosis outpatient Hurst bougienage in the management of benign esopha of abscesses associated with endocarditis by transesophageal geal stricture. [aspire-pharma.com]
They each rest beside the thyroid gland at the center How To Do Internal Jugular Vein Cannulation, Ultrasound-Guided - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the Merck Manuals - Medical Professional Version. [lookformedical.com]
Etiology
If enlarged lymph nodes of the neck are detected they will be described intimately and a scientific opinion of the etiology might be recorded. [aspire-pharma.com]
They each rest beside the thyroid gland at the center How To Do Internal Jugular Vein Cannulation, Ultrasound-Guided - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the Merck Manuals - Medical Professional Version. [lookformedical.com]
Epidemiology
Clinical and epidemiological predictors of transmission in Severe Acute Respiratory Syndrome (SARS) Only a minority of probable ... Mycotic Pseudoaneurysm of Carotid Artery as a Rare Complication of Lemierre Syndrome. Mayo Clinic Proceedings ... [lookformedical.com]
Pathophysiology
They each rest beside the thyroid gland at the center How To Do Internal Jugular Vein Cannulation, Ultrasound-Guided - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the Merck Manuals - Medical Professional Version. [lookformedical.com]
Prevention
Lubani Al Saleh Teebi syndrome Other names Cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies, Cystic fibrosis gastritis megaloblastic anemia[1] Specialty Medical genetics Causes Genetic mutation Prevention [en.wikipedia.org]
Tracheal intubation; use cuffed tube; suction as often as necessary to prevent blocking by thick plugs, and use as high an FiO2 (fraction of inspired oxygen) as necessary (may need 100%). [accessanesthesiology.mhmedical.com]
There is evident proof from medical trials that major prevention of coronary artery illness can be achieved by decreasing serum ldl cholesterol. [aspire-pharma.com]
Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]
(aliem.com) We have no PROOF that timely antibiotics will prevent the syndrome, but we must remember that lack of proof does not equal proof against that hypothesis. [lookformedical.com]