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13 Possible Causes for Acrocephalosyndactyly, Heart Murmur, Wide Space Between the First and Second Toe

  • Seckel Syndrome

    syndrome FGFR2 Athabaskan brainstem dysgenesis syndrome HOXA1 Atrial septal defect type 2 GATA4 Atrial septal defect with atrioventricular conduction defects NKX2-5 Atrioventricular[centogene.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] syndrome F-3 Pfeiffer症候群:Pfeiffer syndrome F-4 Saethre-Chotzen症候群:Saethre-Chotzen syndrome F-5 Carpenter症候群:Carpenter syndrome F-6 Antley-Bixler症候群:Antley-Bixler syndrome[yodobashi.com]

  • Cutis Laxa

    Apert Syndrome Tara L Wenger, Anne V Hing, and Kelly N Evans. Initial Posting: May 30, 2019. Arginase Deficiency Derek Wong, Stephen Cederbaum, and Eric A Crombez.[ncbi.nlm.nih.gov] Other reported osteoarticular features are: a wide space between the first and second toes; talipes equinovarus; metatarsus adductus; genu recurvatum or genu valgum; flat[scielo.br] First and 2 nd heart sounds were normal in intensity but here was a pansystolic murmur 2-3/6 heard all over the precardium.[ispub.com]

  • Seckel Syndrome Type 2

    syndrome FGFR2 Athabaskan brainstem dysgenesis syndrome HOXA1 Atrial septal defect type 2 GATA4 Atrial septal defect with atrioventricular conduction defects NKX2-5 Atrioventricular[centogene.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Alpha-thalassemia/mental retardation syndrome ATRX Ankyloblepharon-ectodermal defects-cleft lip/palate TP63 Anterior segment mesenchymal dysgenesis PITX3 Antley-Bixler syndrome FGFR2 Apert[centogene.com]

  • Dubowitz Syndrome

    […] to identify all associated manifestations Q87.0 Congenital malformation syndromes predominantly affecting facial appearance Inclusion term(s): Acrocephalopolysyndactyly Acrocephalosyndactyly[icd10coded.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] The doctors had identified a heart murmur and they told Imogen and husband Ken to keep a close eye on her.[belfasttelegraph.co.uk]

  • Atelosteogenesis Type 2

    (Apert), see Apert syndrome acrocephalosyndactyly III, see Saethre-Chotzen syndrome acrocephalosyndactyly, type II, see Carpenter syndrome Acrocephalosyndactyly, type III[mygenomics.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] murmur 82.[tawnymullins77.blogspot.com]

  • Baraitser Syndrome

    syndrome FGFR2 Athabaskan brainstem dysgenesis syndrome HOXA1 Atrial septal defect type 2 GATA4 Atrial septal defect with atrioventricular conduction defects NKX2-5 Atrioventricular[centogene.com] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Left ventricular hypertrophy Gonadal dysgenesis Abnormality of the coagulation cascade Abnormality of the vertebral column Abnormality of blood and blood-forming tissues Heart[mendelian.co]

  • Familial Congenital Nasolacrimal Duct Obstruction

    As mentioned previously, headaches, seizures, and hydrocephalus may occur; however, mental retardation is rare. 16 Apert Syndrome Apert syndrome (acrocephalosyndactyly type[entokey.com] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org] murmurs reflect underlying heart disease.[quizlet.com]

  • Adactyly of Foot

    Differential diagnosis can be considered with: Apert syndrome (a rare autosomal dominant disorder characterized by craniosynostosis, craniofacial anomalies, and severe symmetrical[scielo.br] Synonyms:Anterior Polydactyly Replaces: Anterior Duplication of the Limb, Tibial Polydactyly Foot, Preaxial Polydactyly of Subjective: A widely spaced gap between the first[quizlet.com] Congenital heart disease is something you are born with, such as a murmur. If her artery is becoming slowly blocked, she does not have congenital disease.[lookfordiagnosis.com]

  • Trisomy 10p

    Angelman syndrome Antiphospholipid syndrome, Hughes syndrome, Familial antiphospholipid syndrome; Antiphospholipid antibody syndrome; Lupus anticoagulant Apert syndrome.[neurometplus.com] spaced, inverted nipples, mild pectus excavatum; and a sandal gap between the first and second toes.[jmg.bmj.com] murmur Renal defect Genital defect Cryptorchidism Limb defects Clinodactyly Syndactyly Club foot Wide sandal gap Nail dysplasia Anemia Extra / single palmar creases Narrow[e-sciencecentral.org]

  • MORM Syndrome

    What is Apert syndrome?[seattlechildrens.org] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] murmurs Extreme nearsightedness An abnormally curved spine Flat feet When to see a doctor If you think that you or your child may have Marfan syndrome, talk to your doctor[mayoclinic.org]

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