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471 Possible Causes for Craniosynostosis, Lordosis

  • Achondroplasia

    Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis[fpnotebook.com] […] core NGS panel FGFR1, FGFR2, FGFR3, TCF12, TWIST1 Del Dup NGS Craniosynostosis NGS panel CDC45, CYP26B1, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT122, IFT43, IL11RA[ctgt.net] Bulky forehead, saddle nose, lumbar lordosis, bowlegs Very common today Autosomal dominant The iliac wings are short and squared off Narrowing of the spinal canal Achondroplasia[plaza.ufl.edu]

  • Rubinstein-Taybi Syndrome

    Deformation of internal organs such as cardiac and urinary tract defects is common and so are hyper mobility of joints, funnel chest, scoliosis and lordosis.[mun-h-center.se] […] core NGS panel FGFR1, FGFR2, FGFR3, TCF12, TWIST1 Del Dup NGS Craniosynostosis NGS panel CDC45, CYP26B1, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT122, IFT43, IL11RA[ctgt.net] […] meningioma) Possible increased risk of thickened filum terminale, tethering of the spinal cord and spinal lipoma Orthopedic Congenital or acquired scoliosis, kyphosis and lordosis[clinicaladvisor.com]

  • Hypochondroplasia

    Bulky forehead, saddle nose, lumbar lordosis, bowlegs Very common today Autosomal dominant The iliac wings are short and squared off Narrowing of the spinal canal Achondroplasia[plaza.ufl.edu] […] core NGS panel FGFR1, FGFR2, FGFR3, TCF12, TWIST1 Del Dup NGS Craniosynostosis NGS panel CDC45, CYP26B1, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT122, IFT43, IL11RA[ctgt.net] Other features include a large head, limited range of motion in the elbows, lordosis, and bowed legs.[diseaseinfosearch.org]

  • Three M Syndrome

    Figure 2 Photo of the face of the index case showing (A) his triangular face, upturned nose and full lips, (B) lordosis and (C) the prominent heel of his foot.[edmcasereports.com] […] 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] TGFBR1 Loeys-Dietz syndrome TGFBR2 Loeys-Dietz syndrome TTR Amyloidosis, hereditary, transthyretin-related, Dystransthyretinemic hyperthyroxinemia TWIST1 Craniosynostosis[genda.com.ar]

  • Smith-Magenis Syndrome

    […] development Hoarse voice Daytime drowsiness and/or naps Bedwetting Snoring Frequent ear infections Hearing loss Hypotonia (floppiness), especially in infants Scoliosis, lordosis[forgottendiseases.org] Skeletal malformations are common in individuals with SMS and can include front-to-back curvature of the spine (lordosis), mild-to-moderate sideways curvature of the spine[rarediseases.org]

  • Macrocephaly

    Apert syndrome (Medical Encyclopedia) Cleidocranial dysostosis (Medical Encyclopedia) Craniosynostosis (Medical Encyclopedia) Craniosynostosis repair (Medical Encyclopedia[icdlist.com] Lateral lumbar radiograph shows sacral lordosis and anterior vertebral beaking.[neurology.org] The beaten copper cranium: a correlation between intracranial pressure, cranial radiographs, and computed tomographic scans in children with craniosynostosis.[emedicine.medscape.com]

  • Ellis-Van Creveld Syndrome

    The clinical phenotype of this syndrome is variable as the patients may exhibit skeletal abnormalities such as a narrow thorax, lumbar lordosis, and valgus deformity of the[symptoma.com] […] core NGS panel FGFR1, FGFR2, FGFR3, TCF12, TWIST1 Del Dup NGS Craniosynostosis NGS panel CDC45, CYP26B1, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT122, IFT43, IL11RA[ctgt.net] , MEGF8, MSX2, POR, RAB23, RECQL4, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1 Del Dup NGS Craniosynostosis, type 1 TWIST1 Sanger Del Dup NGS Crouzon syndrome FGFR2[ctgt.net]

  • Dysostosis

    In addition to her hypoplastic scapulae and ilia, she had lumbar lordosis and severe spinal dysraphism in the (lower lumbar) sacral region.[nature.com] Clinical Efficiency of Syndactyly Treatment and Digital Compression Recruiting NCT02548260 44 Irradiated Blood Versus Non Irradiated Blood Transfusions in Craniosynostosis[malacards.org] Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of these malformations and leads to a dwarf-like appearance.[orpha.net]

  • Platybasia

    See: Lordosis. multinuclear : a. Çok nüveli. necrology : n. ölülerin isim listesi ve fiyat cetveli, nekroloji. opalgia : n.[tipterimlerisozlugu.com] , Phocomelia) upper limb ( Cleidocranial dysostosis , Madelung's deformity , Sprengel's deformity) knee ( Genu valgum , Genu varum ) Arthrogryposis Skull and face bones Craniosynostosis[bionity.com] […] thumb reduction deficits / limb: Acheiropodia ectromelia Phocomelia Amelia Hemimelia multiple joints: Arthrogryposis Larsen syndrome Rapadilino syndrome Axial Skull and face Craniosynostosis[en.wikipedia.org]

  • Cleidocranial Dysplasia

    Thorax may be narrowed and/or bell-shaped Small scapulae Supernumerary ribs Incompletely ossified sternum Spine Hemivertebrae, spondylosis (frequent) Exaggerated kyphosis or lordosis[learningradiology.com] […] core NGS panel FGFR1, FGFR2, FGFR3, TCF12, TWIST1 Del Dup NGS Craniosynostosis NGS panel CDC45, CYP26B1, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT122, IFT43, IL11RA[ctgt.net] The spine is not usually malaligned but scoliosis, kyphosis and lordosis can occur.[scielo.org.za]

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