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2,060 Possible Causes for Craniosynostosis, Flat Facial Profile, 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] How Down Syndrome Affects Kids Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and[kidshealth.org]

  • Atelosteogenesis Type 2

    Note moderate short stature, flat facial profile (fetal face–like appearance), short forearms, and small hands.[thehealthscience.com] 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]

  • 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: Flat Facial Profile
  • Crouzon Syndrome

    Craniosynostosis can happen before the baby is born or during the first few months of life.[sickkids.ca] […] curved inward) facial profile A prominent nasal bridge (a “beaked” nose) Wide-set, bulging eyes Crossed eyes (strabismus) Underdeveloped upper jaw Protruding lower jaw Overcrowded[childrenshospital.org] Craniosynostosis: genes and mechanisms.[ncbi.nlm.nih.gov]

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

    Furthermore, craniosynostosis was not present at birth or at the age of 4 months.[ncbi.nlm.nih.gov] When viewed in profile, people with midface hypoplasia often appear to have a flat or convex facial structure (see photos on this page).[forgottendiseases.org] 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
  • Autosomal-Recessive Robinow Syndrome

    […] 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] We report a patient with a mild form of the Baller-Gerold syndrome (craniosynostosis-radial aplasia syndrome).[67.posterior.us] ZIC1 Craniosynostosis, FGFR1 related FGFR1 Craniosynostosis, nonspecific FGFR2 Crouzon syndrome FGFR2 Currarino syndrome MNX1 Czech dysplasia COL2A1 Dandy-Walker malformation[centogene.com]

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

    Craniosynostosis is a condition where the early (premature) fusion of the sutures of the bones in the skull occurs.[joeybarile.blogspot.com] However, as he grew older, his facial profile changed to that typical of Kabuki syndrome. (c) 2004 Wiley-Liss, Inc.[ncbi.nlm.nih.gov] Metopic craniosynostosis is the second most common form of craniosynostosis comprising approximately 20-25 percent of all cases of craniosynostosis.[drderderian.com]

    Missing: Wide Space Between the First and Second Toe
  • 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] Clinical features of Robinow syndrome are the following: Craniofacial: Frontal bossing, flat facial profile with large head, midfacial hypoplasia, hypertelorism, wide palpebral[vivavoceoralmedicineradiology.com] De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.[ghr.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Hypomandibular Faciocranial Dysostosis

    […] features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed[mendelian.co] This report suggests that craniosynostosis is not mandatory for the diagnosis of this condition.[ncbi.nlm.nih.gov] […] with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis[malacards.org]

    Missing: Wide Space Between the First and Second Toe

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