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2,055 Possible Causes for Craniosynostosis, Flat Supraorbital Ridges, Wide Space Between the First and Second Toe

  • Dubowitz Syndrome

    Facial appearance is characteristic with narrow or triangular shaped head and high or sloping forehead, flat supraorbital ridge, scanty lateral eyebrows, short palpebral fissures[orpha.net] 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]

  • Gorlin-Chaudhry-Moss Syndrome

    [Gorlin et al. (1960)] in two sisters with craniosynostosis, hypertrichosis, hypoplastic labia majora, dental defects, eye anomalies, patent ductus arteriosus, and normal[ncbi.nlm.nih.gov] De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.[ghr.nlm.nih.gov] , type 2, 604757 Parietal foramina 1, 168500 Parietal foramina with cleidocranial dysplasia, 168550 Craniosynostosis MSX2-related craniosynostosis Tags Green List (high evidence[panelapp.genomicsengland.co.uk]

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

    Definition A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal[uniprot.org] Michels syndrome is characterized by cleft lip and palate, anterior chamber anomalies, blepharophimosis, epicanthus inversus, and craniosynostosis.[ncbi.nlm.nih.gov] "Craniosynostosis and lid anomalies: report of a girl with Michels syndrome". Am. J. Med. Genet. 37 (1): 28–30. doi : 10.1002/ajmg.1320370108.[en.wikipedia.org]

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

    We report on a boy with a combination of manifestations reminiscent of aminopterin embryopathy: brachyturricephaly with craniosynostosis, poorly mineralised vault, upslanted[ncbi.nlm.nih.gov] Craniosynostosis Craniosynostosis, or simply synostosis, is the early growing together (or fusion) of two or more bones of the skull.[cincinnatichildrens.org] Published in American journal of medical genetics 1993 We report on a boy with a combination of manifestations reminiscent of aminopterin embryopathy: brachyturricephaly with craniosynostosis[semanticscholar.org]

    Missing: 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]

    Missing: Flat Supraorbital Ridges
  • 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: Flat Supraorbital Ridges
  • Isolated Brachycephaly

    The frontal bone is flat, and the supraorbital ridge and lateral orbital rim are recessed ( Figure 45-3 ).[diacritech.com] Etiology of Craniosynostosis The etiology of nonsyndromic craniosynostosis is unknown, and the condition is sporadic in most instances.[aafp.org] Major manifestations of the disorder are brachycephaly with variable synostosis of coronal, sagittal, and lambdoid sutures; malar hy-poplasia; shallow supraorbital ridges;[rrnursingschool.biz]

    Missing: Wide Space Between the First and Second Toe
  • Saethre-Chotzen Syndrome

    Major manifestations of the disorder are brachycephaly with variable synostosis of coronal, sagittal, and lambdoid sutures; malar hy-poplasia; shallow supraorbital ridges;[rrnursingschool.biz] Furthermore, craniosynostosis was not present at birth or at the age of 4 months.[ncbi.nlm.nih.gov] Craniosynostosis can happen before the baby is born or during the first few months of life.[sickkids.ca]

    Missing: Wide Space Between the First and Second Toe
  • Isolated Trigonocephaly

    Major manifestations of the disorder are brachycephaly with variable synostosis of coronal, sagittal, and lambdoid sutures; malar hy-poplasia; shallow supraorbital ridges;[rrnursingschool.biz] See illustrations of all types of craniosynostosis on the Symptoms of Craniosynostosis page. What Causes Craniosynostosis?[weillcornellbrainandspine.org] Common Syndromic Craniosynostosis like Apert and Crouzon have prevalence of about 1 in 65000, each about 4-6 per cent of all craniosynostosis.[childneurosurgeon.com]

    Missing: Wide Space Between the First and Second Toe
  • Familial Scaphocephaly Syndrome

    Craniosynostosis Causes Craniosynostosis is usually an isolated finding in an otherwise normal child. The precise causes vary and are incompletely understood.[chla.org] Major manifestations of the disorder are brachycephaly with variable synostosis of coronal, sagittal, and lambdoid sutures; malar hy-poplasia; shallow supraorbital ridges;[rrnursingschool.biz] However, most children with craniosynostosis are otherwise healthy and have normal intelligence. Symptoms & Types Symptoms depend on the type of craniosynostosis.[texaschildrens.org]

    Missing: Wide Space Between the First and Second Toe

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