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17 Possible Causes for Craniosynostosis, Muscle Hypotonia, 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] From Wikidata Jump to navigation Jump to search chromosomal disease characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused[wikidata.org] A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org]

  • Dubowitz Syndrome

    A "new" clinical subtype is defined, which also includes anorectal anomalies and premature craniosynostosis.[ncbi.nlm.nih.gov] Low or weak muscle tone 0001252 Neuroblastoma Cancer of early nerve cells 0003006 Otitis media Middle ear infection 0000388 Pes planus Flat feet Flat foot [ more ] 0001763[rarediseases.info.nih.gov] A “new” clinical subtype is defined, which also includes anorectal anomalies and premature craniosynostosis.[dx.doi.org]

  • 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] Some individuals affected by CFND may also have diminished muscle tone (hypotonia), developmental delays, hearing impairment (sensorineural deafness), a sunken chest (pectus[rarediseases.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]

  • 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] Low or weak muscle tone 0001252 Pectus excavatum Funnel chest 0000767 Renal hypoplasia/aplasia Absent/small kidney Absent/underdeveloped kidney [ more ] 0008678 Sandal gap[rarediseases.info.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]

  • 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] He had difficulty in walking, mild proximal muscular hypotonia in the lower extremities and hyperactive deep tendon reflexes.[nature.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]

  • Macrocephaly-Developmental Delay Syndrome

    Williams syndrome Obesity: Prader-Willi syndrome, Beckwith-Wiedemann syndrome Head and Neck Flat occiput: Down syndrome, Zellweger syndrome Prominent occiput: trisomy 18 Craniosynostosis[learn.pediatrics.ubc.ca] However, young AS patients may also exhibit feeding difficulties and muscle hypotonia.[clinchem.aaccjnls.org] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.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] Mucosal neuromas à GI symptoms, muscle hypotonia, chronic constipation due to hyperplasia of autonomic ganglia in the intestinal wall.[almostadoctor.co.uk] 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]

  • 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] Individuals with EFEMP2 -related cutis laxa usually present with muscle hypotonia. Other common findings are arachnodactyly, joint laxity, and pectus deformities.[ncbi.nlm.nih.gov] 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]

  • Familial Congenital Nasolacrimal Duct Obstruction

    […] syndrome,” and (c) simple or single craniosynostosis.[entokey.com] Cramp Muscle Hypertonia Muscle Hypotonia Muscle Neoplasms Muscle Rigidity Muscle Spasticity Muscle Weakness Muscular Atrophy Muscular Atrophy, Spinal Muscular Diseases Muscular[medgene.med.harvard.edu] space between first and second toes (sandal toes) clinodactyly of the fifth finger All of these are found in individuals without DS.[medicalhomeportal.org]

  • Kenny-Caffey Syndrome Type 1

    Cranio-osteoarthropathy Craniodiaphyseal dysplasia Cranioectodermal dysplasia Craniofacial conodysplasia Craniometadiaphyseal dysplasia, wormian bone type Craniometaphyseal dysplasia Craniosynostosis-anal[se-atlas.de] Liver problems After infancy include: Hypotonia Muscle pain Breakdown of muscle tissue Peripheral neuropathy Infants with mitochondrial trifunctional protein deficiency are[wikidoc.org] space between the first and second toes.[medcraveonline.com]

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