Case presentation: A 7-year-old female patient from Bogotá, who presented clinical signs of global neurodevelopmental delay, cerebellar ataxia, frequent respiratory infections and ocular telangiectasias. [scielo.org.co]

The main clinical characteristics include: cerebellar ataxia: progressive and present in all cases oculomucocutaneous telangiectasias greater susceptibility to types of infection (partial combined immunodeficiency 3) and neoplasms Genetics The condition [radiopaedia.org]

• Swelling

  […] hemorrhoids[pl] 【出血性腎炎】*hemorrhagic nephritis 【出血性大腸炎】*hemorrhagic colitis ^＝出血性結腸炎 【出血性脳炎】*hemorrhagic encephalitis 【出血性脳症】*hemorrhagic encephalopathy 【出血性膀胱炎】*hemorrhagic cystitis 【出血痘】*hemorrhagic vaccinia 【出血熱】*hemorrhagic fever (略 HF) (腫) 【腫大】【腫脹】*swelling [medo.jp]

• Atrial Septal Defect

  […] flutter *auricular flutter 【心房中隔欠損症】*atrial septal defect (略 ASD) 【心房粘液腫】*atrial myxoma 【心膜炎】*pericarditis (唇) 【唇外反】*eclabium 【唇顎口蓋裂】*cheilognathopalatoschisis 【唇顎裂】【唇顎披裂】*cheilognathoschisis 【唇発育不全】*atelocheilia 【唇裂】*cleft lip *cheiloschisis (＝口唇裂) [medo.jp]

• Respiratory Distress

  distress syndrome 【急性鼓膜炎】*acute myringitis 【急性好酸球性肺炎】*acute eosinophilic pneumonia (略 AEP) 【急性喉頭炎】*acute laryngitis 【急性骨髄炎】*acute osteomyelitis 【急性骨髄性白血病】*acute myelogenous leukemia (略 AML) 【急性根尖性歯周炎】[[歯]]*acute apical periodontitis 【急性細菌性心内膜炎】*acute [medo.jp]

• Dysphagia

  MalaCards based summary : Odontoma-Dysphagia Syndrome, also known as odontoma dysphagia syndrome, is related to odontoma and dysphagia. [malacards.org]

  Orpha Number: 2724 Disease definition Odontoma- dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia. Epidemiology Less than ten cases have been reported so far. [rarediseases.info.nih.gov]

  Diseases related with Melanoma and Dysphagia In the following list you will find some of the most common rare diseases related to Melanoma and Dysphagia that can help you solving undiagnosed cases. [mendelian.co]

  *(→栄養失調) 【壊死】*necrosis 【壊疽】*gangrene *a) gangrenous 【壊疽性口内炎】*gangrenous stomatitis 【壊疽性膿皮症】*pyoderma gangrenosum[L] (略 PG) 【腋窩ヒグローマ】*hygroma axillare[L] 【円形脱毛症】*alopecia areata *alopecia circumscripta 【円錐角膜】*keratoconus 【円柱腫】*cylindroma 【嚥下困難】【嚥下障害】*dysphagia [medo.jp]

• Nausea

  […] neoplasm (＝悪性腫瘍) 【悪性組織球症】*malignant histiocytosis (略 MH) 【悪性中皮腫】*malignant mesothelioma 【悪性貧血】*pernicious anemia 【悪性黒子】*lentigo maligna[L] 【悪性黒子黒色腫】*lentigo maligna melanoma (略 LMM) 【悪性傍神経節腫】*malignant paraganglioma 【悪性リンパ腫】*malignant lymphoma 【悪心】*nausea [medo.jp]

• Vomiting

  /*vomition/*vomitus *emesis (カ) 【カタル性胃炎】*catarrhal gastritis 【カタル性炎】*catarrhal inflammation 【カタル性舌炎】*catarrhal glossitis *glossitis catarrhalis[L] 【カフェオーレ斑】*cafe-au-lait spot 【カポジ肉腫】*Kaposi's sarcoma 【カリウム血症】*kalemia 【カリウム欠乏症】*kaliopenia 【カリニ肺炎】*pneumocystis [medo.jp]

• Muscular Atrophy

  Skeletal muscle atrophy Infantile onset Gait disturbance Tremor Cerebellar atrophy Generalized muscle weakness Limb muscle weakness Paralysis Abnormal cerebellum morphology Falls Sensory neuropathy Ophthalmoplegia Lower limb muscle weakness Rigidity [mendelian.co]

• Hearing Impairment

  impairment Strabismus Growth delay Hearing impairment Global developmental delay Sclerosis of hand bone Patchy hypo- and hyperpigmentation Epicanthus Progressive clavicular acroosteolysis Abnormality of the Achilles tendon Neoplasm of the thyroid gland [mendelian.co]

  impairment *[＝聴力損失] hearing loss *bradyacusia *hypacusis (ニ) 【ニコチン性口内炎】*nicotinic stomatitis 【ニューモシスチス症】*pneumocystosis 【ニワトリ歩行】*steppage gait (＝鶏歩) (肉) 【肉眼的膿尿】*macropyuria 【肉芽腫】*granuloma 【肉芽腫症】*granulomatosis 【肉芽腫性口唇炎】*cheilitis granulomatosa 【肉腫】* [medo.jp]

• Skin Ulcer

  ulcer Myocardial infarction Narrow face Alopecia Increased bone mineral density Myeloid leukemia Cafe-au-lait spot Scleroderma Coronary artery atherosclerosis Abnormal hair whorl Neoplasm of the small intestine Premature arteriosclerosis Hypertrophic [mendelian.co]

• Suggestibility

  Etiology Hypertrophy and dysmotility of the esophageal smooth muscles is suggested to have causative role for dysphagia. Genetic counseling In several cases, autosomal dominant inheritance has been suspected. [rarediseases.info.nih.gov]

  Occasionally, cardiac (stenosis of the intrathoracic descendent aorta, interstitial myocarditis), renal (pyelonephritis) and hepatic (hepatic sclerosis) involvement has been described.EtiologyHypertrophy and dysmotility of the esophageal smooth muscles is suggested [malacards.org]

  The symptoms are often nonspecific and may not even suggest a primary esophageal disorder. This is a report of two cases of achalasia seen in neonates, both of whom had other unusual and exceedingly uncommon congenital abnormalities. [link.springer.com]

  A recent study using MR spectroscopy of adult patients with ataxia telangiectasia suggests that the white matter T2/FLAIR hyperintense signal abnormality is secondary to reduced cellularity rather than active demyelination or ischemia 11. [radiopaedia.org]

  These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features [mendelian.co]

• Irritability

  […] hyperventilation 【過潅流症候群】*hyperperfusion syndrome 【過形成】*hyperplasia 【過血糖症】*hyperglycemia (＝高血糖症) 【過呼吸】*hyperpnea 【過誤腫】*hamartoma 【過酸症】*chlorhydria *hyperchlorhydria (＝胃酸過多症) 【過色素性】【過染色性】*hyperchromatism 【過量輸液】*hyperhydration 【過敏症】*allergy ＝アレルギー 【過敏性結腸】*irritable [medo.jp]

Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]

Early diagnosis is critical to initiate a timely interdisciplinary treatment, improve acute symptoms, and control the multiple comorbidities of the disease. [scielo.org.co]

Treatment and prognosis As there is no cure (currently), treatment is generally around supportive measures. [radiopaedia.org]

Treatments for bladder cancer include surgery, radiation therapy, chemotherapy, and biologic therapy. Biologic therapy boosts your body's own ability to fight cancer. [mendelian.co]

Treatment and prognosis As there is no cure (currently), treatment is generally around supportive measures. [radiopaedia.org]

However, the disease should be confirmed by verifying elevated levels of AFP and, if necessary, a genetic study, all in order to generate an appropriate clinical approach to better guide the management and prognosis of patients. [scielo.org.co]

Synonyms boder syndrome|odontomatosis - aortae esophagus stenosis Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here. [pediascape.org]

Etiology Hypertrophy and dysmotility of the esophageal smooth muscles is suggested to have causative role for dysphagia. Genetic counseling In several cases, autosomal dominant inheritance has been suspected. [rarediseases.info.nih.gov]

Gupta A, Hollander D: Duplication of the pylorus found concomitantly with achalasia: congenital or peptic etiology. Dig Dis 22 :829–830, 1977 Google Scholar 8. Rozycki DL, Ruben RJ, Rapins I, Spiro AJ: Autosomal recessive deafness. [link.springer.com]

Epidemiology Less than ten cases have been reported so far. Clinical description Three of the reported patients manifested multiple odontomas. [rarediseases.info.nih.gov]

Finally, it should be noted that since the population mentioned is not representative, no epidemiological data can be generated or generalized about the semiology or clinical benefit of treatment for AT. [scielo.org.co]