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16 Possible Causes for Craniosynostosis, Macroglossia, 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] Dental malocclusion and macroglossia are associated. Technical modifications to increase macroglossia surgery safety and efficacy have been described.[doi.org] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org]

  • Multiple Endocrine Neoplasia Type 2B

    […] with myopathy; gastrointestinal complaints, especially constipation; symptoms derived from medullary carcinoma of the thyroid ; symptoms derived from pheochromocytoma ; craniosynostosis[en.wikipedia.org] Between ages 2 and 4, they develop full lips, large rounded cheeks , a broad nose , and an enlarged tongue ( macroglossia ).[ghr.nlm.nih.gov] Figure 3 The first toe is longer than the others and there is a wide space between the first and second toe.[ijponline.biomedcentral.com]

  • Dubowitz Syndrome

    A "new" clinical subtype is defined, which also includes anorectal anomalies and premature craniosynostosis.[ncbi.nlm.nih.gov] […] lipodystrophy Congenital muscular dystrophy type 1A Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Dextrocardia Peters plus syndrome Macroglossia[checkrare.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]

  • Genee-Wiedemann Syndrome

    […] microtia, skin tags, significant developmental delay, cleft palate EFTUD2 gene on chromosome 17q21 Baller Gerold syndrome (OMIM# 218600) Abnormally shaped skull, coronal craniosynostosis[gynecology-obstetrics.imedpub.com] […] repair in neonates, endotracheal intubation for insufficient airway, and use of specialized nipples or nasogastric tube feedings to manage feeding difficulties resulting from macroglossia[checkorphan.org] He had a wide space between the first and second toe of his feet and subungual fibroma on the second and third toe of the right foot and on the third toe of the left foot.[jmg.bmj.com]

  • 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] ., Macroglossia, McUne-Albright Syndrome, Treacher-Collins Syndrome, etc.).[euro-libris.ro] […] 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]

  • 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] Vascular malformation is a common cause of macroglossia. Macroglossia may interfere with speech or deglutition.[oralmaxillo-facialsurgery.blogspot.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]

  • 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] […] familial 池田 康行 110 61 lissencephaly syndrome 泉川 良範 115 62 Lujan-Fryns syndrome 泉川 良範 117 63 lung 泉川 良範 118 64 lymphedema 泉川 良範 121 65 Machado-Joseph disease 斉藤 伸治 122 66 macroglossia[nippon-rinsho.co.jp] 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]

  • Familial Congenital Nasolacrimal Duct Obstruction

    […] syndrome,” and (c) simple or single craniosynostosis.[entokey.com] Macroglossia is associated with several systemic conditions.[quizlet.com] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org]

  • Cutis Laxa

    , 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] The facies are coarse with thick lips, macroglossia and relative macrocephaly.[caribbean.scielo.org] Other reported osteoarticular features are: a wide space between the first and second toes; talipes equinovarus; metatarsus adductus; genu recurvatum or genu valgum; flat[scielo.br]

  • Greenberg Dysplasia

    1 CRS1 123100 Genetic Test Registry Craniosynostosis 2 Craniosynostosis, Boston-Type CRS2 CSB 604757 Genetic Test Registry Craniosynostosis 5, Susceptibility To CRS5 615529[ukgtn.nhs.uk] 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] TGFBR1 Loeys-Dietz syndrome TGFBR2 Loeys-Dietz syndrome TTR Amyloidosis, hereditary, transthyretin-related, Dystransthyretinemic hyperthyroxinemia TWIST1 Craniosynostosis[genda.com.ar]

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