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]

• 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]

• Failure to Thrive

  ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome Related symptoms: Short stature Micrognathia Failure to thrive Hypertension Skeletal muscle atrophy SOURCES: ORPHANET More info about ATYPICAL WERNER SYNDROME Low match LEOPARD SYNDROME [mendelian.co]

• Hypotension

  Affected individuals have few clinical symptoms other than mild edema, hypotension, fatigue, and, occasionally, a peculiar lower body lipodystrophy (mainly in adult females). [mendelian.co]

  […] undernutrition *hyponutrition *subnutrition *hypoalimentation *subalimantation 【低塩素血症】【低クロール血症】*hypochloremia/*hypochloraemia 【低カリウム血症】*hypokalemia *hypopotassemia 【低カルシウム血症】*hypocalcemia 【低換気】*hypoventilation *underventilation 【低形成】*hypoplasia (＝減形成) 【低血圧症】*hypotension [medo.jp]

• Hypertension

  ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome Related symptoms: Short stature Micrognathia Failure to thrive Hypertension Skeletal muscle atrophy SOURCES: ORPHANET More info about ATYPICAL WERNER SYNDROME Low match LEOPARD SYNDROME [mendelian.co]

  【高血圧】*hypertension 【高血圧眼底】*fundus hypertonicus[L] 【高血圧性心疾患】*hypertensive heart disease (略 HHD) 【高血圧性脳症】*hypertensive encephalopathy 【高血圧性網膜症】*hypertensive retinopathy 【高血圧発作】*hypertensive episode 【高血糖症】*hyperglycemia ＝過血糖症 【高コレステロール血症】*cholesterolemia [medo.jp]

• Tachycardia

  […] bullous epidermolysis *epidermolysis bullosa[L] (略 EB) 【表皮剥離】*epidermolysis 【疲労】*fatigue 【疲労骨折】*fatigue fracture *stress fracture 【貧血】*anemia *a) anemic 【貧血性多発性神経炎】*anemic polyneuritis 【貧毛症】*hypotrichosis *oligotrichia (＝乏毛症、減毛症) 【頻呼吸】*tachypnea 【頻脈】*tachycardia [medo.jp]

• Osteoporosis

  Atherosclerosis Symptoms // Phenotype % cases Neoplasm Common - Between 50% and 80% cases Hypertension Common - Between 50% and 80% cases Autosomal dominant inheritance Uncommon - Between 30% and 50% cases Carcinoma Uncommon - Between 30% and 50% cases Osteoporosis [mendelian.co]

  […] infarction 【骨腫】*osteoma 【骨症】【骨障害】*osteopathy (＝オステオパシー) 【骨髄炎】*osteomyelitis 【骨髄脂肪腫】*myelolipoma 【骨髄腫】*myeloma 【骨髄性白血病】*myelogenous leukemia 【骨髄線維症】*myelofibrosis 【骨髄癆】*myelophthisis 【骨性斜頚】*osseous torticollis 【骨折】*bone fracture/*fracture 【骨粗鬆症】【骨多孔症】*osteoporosis [medo.jp]

• Narrow Face

  […] sarcoma Aortic valve stenosis Skeletal muscle atrophy Hypogonadism Hyperkeratosis Retinal degeneration Delayed puberty Type II diabetes mellitus Ptosis Abnormality of the hair Abnormality of retinal pigmentation Myopathy Skin ulcer Myocardial infarction Narrow [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]

• Hyperactivity

  Hypoglycemia Dysarthria Attention deficit hyperactivity disorder Pruritus Genu valgum Facial asymmetry Peripheral axonal neuropathy Overgrowth Abnormality of skin pigmentation Acrania Recurrent fractures Paresthesia Paralysis Gastrointestinal hemorrhage [mendelian.co]

  […] poikiloderma 【多血球症】*polyglobulism 【多血症】*polycythemia ^＝赤血球増加症 【多言症】*hyperlalia 【多呼吸】*polypnea *tachypnea [頻呼吸] 【多合指症】*polysyndactyly 【多節症】*polymeria 【多足症】*polypodia 【多臓器不全】*multiple organ failure (略 MOF) 【多動症】*hyperanakinesia/*hyperanakinesis *hyperkinesia *hyperactivity [medo.jp]

• Asthenia

  […] canal defect Unilateral renal agenesis Cubitus valgus Melanocytic nevus Parietal bossing Third degree atrioventricular block Hyperextensible skin Hyperlipidemia Cystathioninuria Galactosuria Nonketotic hyperglycinemia Hyperglycinemia Cystinuria Aciduria Asthenia [mendelian.co]

  (＝爪甲欠損症) 【無足症】*apodia 【無足体】*apus 【無胆汁症】*acholia 【無胆汁尿症】*acholuria 【無痛覚】*analgia 【無動症】*akinesia (＝失動症、運動不能) 【無排卵症】*anovulation 【無排卵性月経】*anovulatory menstruation *anovular menstruation 【無発生】【無発育】*agenesis 【無乳症】*agalactia 【無尿症】*anuria (＝尿閉) 【無力症】【無気力】*asthenia [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]