Create issue ticket

399 Possible Causes for Craniosynostosis, Lordosis

  • Achondroplasia

    […] 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] 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] With walking , the hump goes away and a pronounced sway (lordosis) of the lumbar region (the lower back) becomes apparent.[medicinenet.com]

  • Rubinstein-Taybi Syndrome

    […] 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] 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] Spinal anomalies, such as spina bifida, congenital or acquired scoliosis, kyphosis, and lordosis have been commonly described in patients with RTS-1 (75.3%) [ 3 , 12 – 14[jmedicalcasereports.com]

  • Hypochondroplasia

    […] 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] Shortened Limbs Broad, short hands and feet Large head Limited range of motion in the elbow Sway of the lower back ( lordosis ) Bowed legs Small percentage have mild to moderate[littlepeopleuk.org]

  • Three M Syndrome

    […] 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] 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] ZIC1 Craniosynostosis, FGFR1 related FGFR1 Craniosynostosis, nonspecific FGFR2 Crouzon syndrome FGFR2 Currarino syndrome MNX1 Czech dysplasia COL2A1 D-bifunctional protein[centogene.com]

  • Smith-Magenis Syndrome

    Skeletal malformations often involve the spine, especially lordosis (front-to-back spine curvature) and scoliosis (sideway spine curvature).[symptoma.com] 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] Other signs may be: Abnormal spine curvature (scoliosis and lordosis) Short stature Raucous voice Considerable reduction of pain and temperature sensitivity Vision problems[symptoma.com]

  • Ellis-Van Creveld Syndrome

    […] 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 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] , 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]

  • Platybasia

    , Phocomelia) upper limb ( Cleidocranial dysostosis , Madelung's deformity , Sprengel's deformity) knee ( Genu valgum , Genu varum ) Arthrogryposis Skull and face bones Craniosynostosis[bionity.com] See: Lordosis. multinuclear : a. Çok nüveli. necrology : n. ölülerin isim listesi ve fiyat cetveli, nekroloji. opalgia : n.[tipterimlerisozlugu.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]

  • Mucopolysaccharidosis

    "MPS I" redirects here. For zhuyin or bopomofo, a Chinese phonetic system, also known as Mandarin Phonetic Symbols I, see Bopomofo . Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans .[…][en.wikipedia.org]

  • Down Syndrome

    […] medical problems and may develop: Congenital heart disease Gastrointestinal abnormalities Musculoskeletal and movement problems Spine disorders such as scoliosis, kyphosis or lordosis[chop.edu]

  • Cleidocranial Dysplasia

    […] 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] 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] The spine is not usually malaligned but scoliosis, kyphosis and lordosis can occur.[scielo.org.za]

Further symptoms

Similar symptoms