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11,041 Possible Causes for ILE156VAL, SAETHRE CHOTZEN, SYNDROME

  • Crouzon Syndrome

    Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. Am. J. med.[nature.com] The most common occurences of dysostosis involve Crouzon syndrome with Oxycephaly and Apert Syndrome with oxycephaly.[symptoma.com] The differential diagnosis of Crouzon syndrome includes Apert syndrome, Pfeiffer, Jackson-Weiss, Carpenter and Saethre-Chotzen syndrome.[scialert.net]

    Missing: ILE156VAL
  • Harlequin Syndrome

    Crouzon, Apert, Pfeiffer, Saethre-Chotzen, and Carpenter Syndromes Crouzon Syndrome Crouzon syndrome was first described in 1912.[emedicine.medscape.com] Additionally, Harlequin syndrome can also result following a stroke, Horner's syndrome, and even autoimmune hyperthyroidism.[symptoma.com] With this in mind, Case 1 can be described as harlequin syndrome resembling Ross syndrome, Case 2 as harlequin syndrome with normal ocular sympathetic innervation, Case 3[ncbi.nlm.nih.gov]

    Missing: ILE156VAL
  • Apert Syndrome

    Crouzon, Apert, Pfeiffer, Saethre-Chotzen, and Carpenter Syndromes Crouzon Syndrome Crouzon syndrome was first described in 1912.[emedicine.medscape.com] […] an increase the chance of Apert syndrome.[symptoma.com] The differential includes other forms of acrocephalosyndactyly and acrocephalopolysynactyly : Saethre-Chotzen syndrome Pfeiffer syndrome Carpenter syndrome Crouzon syndrome[radiopaedia.org]

    Missing: ILE156VAL
  • Saethre-Chotzen Syndrome

    Saethre-Chotzen syndrome (SCS) is part of the disease of craniosynostosis group.[symptoma.com] In the light of these findings, the diagnosis of incomplete renal Fanconi syndrome was made.[ncbi.nlm.nih.gov] BACKGROUND: Saethre-Chotzen syndrome is a craniosynostosis syndrome further characterized by distinctive facial and limb abnormalities.[ncbi.nlm.nih.gov]

    Missing: ILE156VAL
  • Rubinstein-Taybi Syndrome

    Differential diagnosis The syndrome can sometimes be difficult to differentiate from Saethre-Chotzen syndrome, Floating Harbor syndrome and Cornelia de Lange syndrome (see[orpha.net] Although mutations that are presumed to be responsible for Rubinstein-Taybi syndrome have been identified, prevention of this syndrome is currently not possible.[symptoma.com] Saethre-Chotzen syndrome. Greig's cephalo-polysyndactyly syndrome. Floating-Harbor syndrome. Diagnosis [ 3 ] Diagnosis of RSTS is primarily clinical.[patient.info]

    Missing: ILE156VAL
  • Aicardi's Syndrome

    Covers 20 new syndromes, including Perlman Syndrome, Cerebro-Costo-Mandibular Syndrome, Van der Woude Syndrome, Septo-Optic Dysplasia, Saethre-Chotzen Syndrome, Congenital[books.google.com] The differential diagnoses of Aicardi syndrome include oculocerebrocutaneous syndrome and neuronal migration disorders.[symptoma.com] Isolated cases in the literature have been associated with facial asymmetry, plagiocephaly, and the Dandy-Walker syndrome.[ncbi.nlm.nih.gov]

    Missing: ILE156VAL
  • Miller Dieker Syndrome

    Covers 20 new syndromes, including Perlman Syndrome, Cerebro-Costo-Mandibular Syndrome, Van der Woude Syndrome, Septo-Optic Dysplasia, Saethre-Chotzen Syndrome, Congenital[books.google.com] Abstract Four unrelated children with the Miller-Dieker syndrome, previously referred to as the lissencephaly syndrome, have been evaluated, bringing to ten the number of[ncbi.nlm.nih.gov] […] dyskinesi • PU med hypotoni og macrocefali eller CCA • Rett syndrom • Rett syndrom, congenital variant • Rieger Syndrom • Rubinstein Taybi syndrom • Russel Silver syndrom • Saethre-Chotzen[genetikkportalen.no]

    Missing: ILE156VAL
  • Cerebro-Oculo-Facio-Skeletal Syndrome

    Covers 20 new syndromes, including Perlman Syndrome, Cerebro-Costo-Mandibular Syndrome, Van der Woude Syndrome, Septo-Optic Dysplasia, Saethre-Chotzen Syndrome, Congenital[books.google.com] These results suggest that CS and COFS syndrome share a common pathogenesis.[ncbi.nlm.nih.gov] The relationship between COFSS and differential diagnoses, Cockayne syndrome (CS), Pena-Shokier phenotype (PSP) and Neu-Lexova syndrome (NLS) are discussed.[ncbi.nlm.nih.gov]

    Missing: ILE156VAL
  • Trigonocephaly

    A diagnosis of Saethre-Chotzen syndrome was made in view of the clinical and neuroradiological signs.[ncbi.nlm.nih.gov] We also review two very similar published cases formerly considered to have the C syndrome.[ncbi.nlm.nih.gov] Saethre-Chotzen syndrome is caused by mutations in the TWIST gene on chromosome 7p21.2.[ncbi.nlm.nih.gov]

    Missing: ILE156VAL
  • Pallister-Killian Syndrome

    Covers 20 new syndromes, including Perlman Syndrome, Cerebro-Costo-Mandibular Syndrome, Van der Woude Syndrome, Septo-Optic Dysplasia, Saethre-Chotzen Syndrome, Congenital[books.google.de] Abstract We report the case of a 19-month-old boy with Pallister-Killian syndrome associated with West syndrome.[ncbi.nlm.nih.gov] Abstract The Pallister-Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by "coarse" face, profound mental retardation, and epilepsy.[ncbi.nlm.nih.gov]

    Missing: ILE156VAL