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2,276 Possible Causes for Craniosynostosis, High Pitched Voice, Wide Space Between the First and Second Toe

  • 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] Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.[ncbi.nlm.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] 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] She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles.[termedia.pl]

  • Seckel Syndrome Type 2

    […] 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] 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] In addition, in some cases, certain fibrous joints between the bones of the skull (cranial sutures) may close prematurely (craniosynostosis).[rarediseases.org]

  • 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: High Pitched Voice
  • Cole-Carpenter Syndrome

    Cole-Carpenter syndrome-1 (CLCRP1) is an independent osteogenesis imperfect (OI)-like disorder that manifests as bone fragility, craniosynostosis, ocular proptosis, hydrocephalus[ncbi.nlm.nih.gov] pitched voice 0001620 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Microdontia Decreased width of tooth 0000691 Orbital craniosynostosis 0005472 Osteopenia[rarediseases.info.nih.gov] Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP1 inheritance is autosomal dominant.[uniprot.org]

    Missing: Wide Space Between the First and Second Toe
  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    This is a survey of the long-term result after various surgical treatments in a child with microcephalic osteodysplastic primordial dwarfism type II (MOPD II) and craniosynostosis[ncbi.nlm.nih.gov] Intrauterine development Intrauterine growth retardation Neurologic Abnormality Developmental delay (mild-severe) Infarcts Moyamoya disease Multiple aneurysms Performance High-pitched[datagenno.com] His clinical course was unusual with several episodes of breathing difficulties and increased intracranial pressure secondary to craniosynostosis at the age of 16 months.[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe
  • Pfeiffer-Palm-Teller Syndrome

    Type 3 includes craniosynostosis and severe proptosis.[en.wikipedia.org] Voice Annotation Sufficiency: ?[monarchinitiative.org] Craniosynostosis, Boston type Craniosynostosis, Herrmann-Opitz type Craniosynostosis, Philadelphia type Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome[se-atlas.de]

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

    Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects. Development 145.[icahn.mssm.edu] Bloom syndrome listen (… SIN-drome) A rare, inherited disorder marked by height that is shorter than average, a narrow face with redness and a rash, a high-pitched voice,[cancer.gov] FGFR -Related Craniosynostosis Syndromes Nathaniel H Robin, Marni J Falk, and Chad R Haldeman-Englert. Initial Posting: October 20, 1998; Last Update: June 7, 2011.[ncbi.nlm.nih.gov]

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

    […] sagittal craniosynostosis lambdoid sutures craniosynostosis pilonidal dimple absent coccyx spina bifida occulta scoliosis coxa v alga decreased hip-joint mobility flared[humpath.com] […] myopia Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched[icdlist.com] * Англо-русский медицинский словарь См. также в других словарях: acrocephalopolysyndactyly — A group of congenital syndromes characterized by abnormal skull shape due to craniosynostosis[translate.academic.ru]

    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: High Pitched Voice

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