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2,130 Possible Causes for Craniosynostosis, Thin Brain Stem, Wide Space Between the First and Second Toe

  • Seckel Syndrome

    These reports illustrate that the Chiari I malformation can develop rapidly in the face of increased intracranial pressure, craniosynostosis, and spinal CSF diversion.[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] […] diseases were distinguished by height: typically in Primary autosomal recessive microcephalies stature was between 1 SD and 2 SD and in Seckel syndrome between 4 and 12 SD) and Craniosynostosis[prenatalmedicine.com]

  • 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.[doi.org]

    Missing: Thin Brain Stem
  • 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: Thin Brain Stem
  • 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: Thin Brain Stem
  • Smith-Magenis Syndrome

    One patient had subependymal periventricular gray matter heterotopia, and the second had a thin corpus callosum, a thin brain stem and hypoplasia of the cerebellar vermis.[ncbi.nlm.nih.gov] Gorlin, Craniosynostosis update 1987, American Journal of Medical Genetics, 31, S4, (99-148), (2005).[oadoi.org] Both patients had a typical clinical presentation and abnormal brain magnetic resonance imaging (MRI) findings.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Seckel Syndrome Type 2

    […] deficits Intellectual impairment Mental impairment [ more ] 0100543 Convex nasal ridge Beaked nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Craniosynostosis[rarediseases.info.nih.gov] […] 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] In addition, in some cases, certain fibrous joints between the bones of the skull (cranial sutures) may close prematurely (craniosynostosis).[rarediseases.org]

    Missing: Thin Brain Stem
  • 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: Thin Brain Stem
  • 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: Thin Brain Stem 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: Thin Brain Stem 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: Thin Brain Stem Wide Space Between the First and Second Toe

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