Symptoma

Acrocephalopolysyndactyly

Acroencephalopolysyndactyly Syndrome

Butterworth-Heinemann, 2013/09/11 - 224 ページ Oral Manifestations of Inherited Disorders focuses on inherited systemic disorders presenting oral manifestations that have been reported as an integral part of the disorder. [books.google.com]

Butterworth-Heinemann, 11.09.2013 - 224 Seiten Oral Manifestations of Inherited Disorders focuses on inherited systemic disorders presenting oral manifestations that have been reported as an integral part of the disorder. [books.google.de]

Abstract We present a female patient with acrocephalopolysyndactyly, pentalogy of Fallot, psychomotor retardation, and hypoacusis with a de novo, apparently balanced, reciprocal translocation 46,XX,t(1;18)(p31;q11). [jmg.bmj.com]

Documentation: Carpenter's Syndrome presents with a number of malformations. [meducator3.net]

Acrocephalosyndactylia (or acrocephalosyndactyly) is the common presentation of craniosynostosis and syndactyly. [en.wikipedia.org]

  • Abdominal Mass

    […] the symptoms of Prune belly syndrome and PrunMetastasis Death See also the symptoms of Abdominal Neoplasms and AbdoOpsoclonus Bone lysis Primary brain neoplasm Abdominal mass Source: Diseases Database See also the symptoms of Neuroblastoma anHeart diseases [webhealthnetwork.com]

  • Periodontitis

    […] deformity - due to frequent severe bleeding into the joints See also the symptoms of Stuart factor deficiency, acquired and StuaScarred skin (see Scaly skin) Small white spots after lesion has healed Secondary infection (type of Opportunistic infections) Periodontal [webhealthnetwork.com]

  • Macula

    […] and AortBurst aortic aneurysm Death See also the symptoms of Aortic aneurysm, familial thoracic 4 and AortBurst aortic aneurysm Death See also the symptoms of Aortic aneurysm, familial thoracic 5 and AortHypotonia (skeletal muscle) Cherry red spot on macula [webhealthnetwork.com]

  • Grey Turner's Sign

    Turner's sign Retroperitoneal fibrosis Abdominal pain Abdominal mass Back pain Embolism Hypovolaemic shock Source: Diseases Database See also the symptoms of Abdominal aortic aneurysm and Death See also the symptoms of Abdominal Injuries and AbdoStillborn [webhealthnetwork.com]

  • Cranial Asymmetry

    unilateral involvement of lambdoidal and/or coronal sutures) may cause the head and face to appear dissimilar from one side to the other (cranial asymmetry). [rarediseases.org]

  • Psychomotor Retardation

    Abstract We present a female patient with acrocephalopolysyndactyly, pentalogy of Fallot, psychomotor retardation, and hypoacusis with a de novo, apparently balanced, reciprocal translocation 46,XX,t(1;18)(p31;q11). [jmg.bmj.com]

  • Protein Electrophoresis Abnormal

    electrophoresis abnormal Source: Diseases Database See also the symptoms of Alpha 1-Antitrypsin Deficiency and Burst aortic aneurysm Death See also the symptoms of Aortic aneurysm, familial thoracic 1 and AortBurst aortic aneurysm Death See also the [webhealthnetwork.com]

  • Hypoketotic Hypoglycemia

    hypoglycemia Sudden death See also the symptoms of Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and LongInfant death #occurs in 25% of cases See also the symptoms of Medium-Chain Acyl-CoA Dehydrogenase Deficiency and MediMyopathy Metabolic [webhealthnetwork.com]

  • Lymphocytopenia

    […] andMononeuritis multiplex Cell mediated immunity impairment Cachexia Progressive multifocal leucoencephalopathy Immunoglobulin levels raised (plasma or serum) Meningoencephalitis Immune deficiency Autoimmune haemolytic anaemia, warm antibody Carcinogenesis Lymphocytopenia [webhealthnetwork.com]

  • Mycobacterium Avium Complex

    avium complex (MAC) Encephalitis Meningitis Nerve damage HIV encephalopathy (see Brain symptoms) AIDS dementia complex Behavioral changes (see Behavioral symptoms) Poor circulation Headache Stroke Lymphoma Death due to internal bleeding See also the [webhealthnetwork.com]

Treatment Treatment Options: No treatment of the ocular defects is necessary in most cases. Craniectomy may be required in cases with severe synostosis. References Article Title: Carpenter syndrome Hidestrand P, Vasconez H, Cottrill C. [disorders.eyes.arizona.edu]

[…] approach to medial tibial stress syndrome (MTSS) Presentation Treatment Phase 1: acute phase Cessation of exercise activity until all pain resolves RICE(P) Phase 2: rehabilitation phase Deep compartment muscle exercise to strengthen the deep fascial–bone [medical-dictionary.thefreedictionary.com]

Given the rarity of these diseases, the treatments outlined in the abstracts are not always evidence based. The information in the abstracts isnot intended to replace existing local, regional or country specific recommendations and guidelines. [orpha.net]

Parents should talk to their children’s physician and medical team about their child, potential associated symptoms and overall prognosis. The symptoms of Carpenter syndrome types 1 and 2 are extremely similar and have significant overlap. [rarediseases.org]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Etiology  Unclear etiology  poor development of the jaw at about the 6th to the 11th week of fetal life 10. [fr.slideshare.net]

Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. [icd10data.com]

Summary Epidemiology The exact prevalence and birth incidence of ACS syndromes are not known. [orpha.net]

D Jordan, S Hindocha, M Dhital, M Saleh and W Khan, The Epidemiology, Genetics and Future Management of Syndactyly, The Open Orthopaedics Journal, 10.2174/1874325001206010014, 6, 1, (14-27), (2012). [doi.org]

Journal of Epidemiology & Community Health. 2006 Oct 1; 60(10):851–3. Reséndiz I, Uribe E. Síndrome de Apert. Rev Acta Med Grupo Ángeles (Méx). 2013; 11 (4): 173-179. Villarroel A, Hochstatter E, Claustro R. [editorial.ucsg.edu.ec]

[…] diagnosed from clinical presentation, symptoms reduction on administration of sympathetic nerve blockade, and intense, focal periarticular uptake of contrast medium in a delayed imaging-phase bone scan; treated by early, aggressive physical therapy to prevent [medical-dictionary.thefreedictionary.com]

Some reports suggest that early surgical intervention may help to prevent intellectual disability in some instances. [rarediseases.org]

Preventing brain compression, optic nerve compression/cornea injury, and psychosocial problems.  2. Promoting normal development of craniofacial structures such as brain, skull, facial bones, and muscle.  3. [fr.slideshare.net]