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2,038 Possible Causes for Craniosynostosis, Duplication or Triplication of Phalanges, Wide Space Between the First and Second Toe

  • Kleiner Holmes Syndrome

    Learn more Other less relevant matches: Low match CRANIOSYNOSTOSIS 1; CRS1 Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial[mendelian.co] […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Widely spaced 1st-2nd toes Widely spaced first and second toes[rarediseases.info.nih.gov] Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of[malacards.org]

  • 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]

    Missing: Duplication or Triplication of Phalanges
  • 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.[oadoi.org]

    Missing: Duplication or Triplication of Phalanges
  • 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: Duplication or Triplication of Phalanges
  • Polysyndactyly

    […] ribs - craniosynostosis - polysyndactyly.[checkorphan.org] […] or triplication of phalanges Clinical features from OMIM: 234280 MalaCards organs/tissues related to Hallux Varus and Preaxial Polysyndactyly: 42 Bone Search GEO for disease[malacards.org] This book represents a comprehensive overview on the subject of craniosynostosis.[books.google.com]

    Missing: 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: Duplication or Triplication of Phalanges
  • Crouzon Syndrome

    Craniosynostosis can happen before the baby is born or during the first few months of life.[sickkids.ca] Craniosynostosis: genes and mechanisms.[ncbi.nlm.nih.gov] (FGFR 2) gene, and characterized by craniosynostosis, shallow orbits, ocular proptosis, midface hypoplasia and a curved, beak‑like nose.[ncbi.nlm.nih.gov]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe
  • Brachycephaly

    For this same photo without the arrows, click here For more information, click on the link if you see this icon Pediatric craniosynostosis. eMedicine.[learningradiology.com] This is known as craniosynostosis.[nhs.uk] A boy with brachycephaly without craniosynostosis, raised intracranial pressure, deafness, cataracts, and global developmental delay is described.[ncbi.nlm.nih.gov]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe
  • Mucopolysaccharidosis

    We present the first reported case associating MPS-I (Hurler-Scheie subtype) with craniosynostosis. A 2.5-year-old girl presented initially with macrocrania.[ncbi.nlm.nih.gov] […] syndrome with variable manifestations exhibiting mainly microcephaly, characteristic facies, mental retardation, short stature, acral skeletal anomalies with occasional craniosynostosis[icd9data.com]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe
  • Ring Chromosome 10

    […] q36.3 8922097, 10982483 case 12 [10982483] Edit 3 4145271_1 46, XY, r(7)(p22q36) [57]/ 46, XY, r(7) [double size ring, 2]/ 45, XY, -7 [2]/ 47, XY, r(7), r(7) [1]/ 46, XY [1] craniosynostosis[chr7.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] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov]

    Missing: Duplication or Triplication of Phalanges

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