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2,117 Possible Causes for Craniosynostosis, Leukocyte Alkaline Phosphatase Increased, Wide Space Between the First and Second Toe

  • Down Syndrome

    Boyadjiev, Genetic advances in craniosynostosis, American Journal of Medical Genetics Part A, 173, 5, (1406-1429), (2017) ., Practice Bulletin No. 187, Obstetrics & Gynecology[doi.org] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] spacing, often with a deep plantar groove between the first and second toes.[dx.doi.org]

  • Dubowitz Syndrome

    A "new" clinical subtype is defined, which also includes anorectal anomalies and premature craniosynostosis.[ncbi.nlm.nih.gov] 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] A “new” clinical subtype is defined, which also includes anorectal anomalies and premature craniosynostosis.[dx.doi.org]

    Missing: Leukocyte Alkaline Phosphatase Increased
  • Craniofrontonasal Dysplasia

    Affected females had hypertelorism, broad nasal root, frontal bossing, craniosynostosis, syndactyly of toes and fingers, and vertical grooving of nails.[ncbi.nlm.nih.gov] 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] Craniofrontonasal dysplasia's (CFND's) phenotypic range includes hypertelorism, coronal craniosynostosis, frontonasal dysplasia, and digital anomalies.[ncbi.nlm.nih.gov]

    Missing: Leukocyte Alkaline Phosphatase Increased
  • Inflammatory Bowel Disease Type 1

    Craniosynostosis in transgenic mice overexpressing Nell-1. J Clin Invest. 2002; 110 :861–870. [ PMC free article ] [ PubMed ] [ Google Scholar ] 58.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Hypophosphatasia

    The patient showed deficiency in alkaline phosphatase (ALP) activity, increased urinary excretion of phosphoethanolamine and severe periodontal disease.[ncbi.nlm.nih.gov] Craniosynostosis is accompanied by putatively functional consequences.[ncbi.nlm.nih.gov] Patients with HPP have defective bone mineralization as well as craniosynostosis that can be seen in the infantile and childhood forms of this disease.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • 3M Syndrome Type 1

    […] blood, increased alkaline phosphatase level, chromosomal abnormalities, and reticulin fibrosis.[emedicine.medscape.com] […] and dental anomalies IL11RA Craniosynostosis type 1 TWIST1 Craniosynostosis type 2 MSX2 Craniosynostosis type 3 TCF12 Craniosynostosis type 4 ERF Craniosynostosis type 6[centogene.com] TGFBR1 Loeys-Dietz syndrome TGFBR2 Loeys-Dietz syndrome TTR Amyloidosis, hereditary, transthyretin-related, Dystransthyretinemic hyperthyroxinemia TWIST1 Craniosynostosis[genda.com.ar]

    Missing: Wide Space Between the First and Second Toe
  • Third Trimester Pregnancy

    The concomitant phenomenon of a third trimester pregnancy with a significant degree of pelvic organ prolapse is extremely rare. We report on a patient with pelvic organ prolapse complicating third trimester pregnancy treated by concomitant cesarean hysterectomy and abdominal sacrocolpopexy. A 30-year-old woman,[…][ncbi.nlm.nih.gov]

    Missing: Craniosynostosis Wide Space Between the First and Second Toe
  • Non-Hodgkin Lymphoma

    Homepage Rare diseases Search Search for a rare disease Non-Hodgkin lymphoma Disease definition Non-Hodgkin malignant lymphomas(NHL) is a heterogeneous group of malignant tumors of the lymphoid system. ORPHA:547 Synonym(s): NHL Prevalence: 1-5 / 10 000 Inheritance: - Age of onset: Adult ICD-10: - OMIM: 605027[…][orpha.net]

    Missing: Craniosynostosis Wide Space Between the First and Second Toe
  • Klinefelter Syndrome

    Researchers estimate that 1 male in about 500 newborn males has an extra X chromosome, making KS among the most common chromosomal disorders seen in all newborns. 1 The likelihood of a third or fourth X is much rarer: 2 Prevalence of Klinefelter syndrome variants Number of extra X chromosomes One (XXY) Two[…][web.archive.org]

    Missing: Craniosynostosis Wide Space Between the First and Second Toe
  • Atelosteogenesis Type 2

    Crouzon-like craniosynostosis with acanthosis nigricans Craniosynostosis (Muenke type) Antley-Bixler syndrome Craniosynostosis (Boston type) Saethre-Chotzen syndrome Shprintzen-Goldberg[emedicine.medscape.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] , MEGF8, MSX2, POR, RAB23, RECQL4, SKI, SLC25A24, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1 Del Dup NGS Craniosynostosis, type 1 TWIST1 Sanger Del Dup NGS Crouzon[ctgt.net]

    Missing: Leukocyte Alkaline Phosphatase Increased

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