Create issue ticket

466 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] Despite sharing a common genetic basis, craniosynostosis has rarely been described in cases of confirmed achondroplasia.[ncbi.nlm.nih.gov] 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

    […] 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] […] 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

    Hypochondroplasia (HCH) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar[ncbi.nlm.nih.gov] The siblings (male and female) with HCH also had craniosynostosis and cleft palate, respectively.[ncbi.nlm.nih.gov] 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]

  • 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] TGFBR1 Loeys-Dietz syndrome TGFBR2 Loeys-Dietz syndrome TTR Amyloidosis, hereditary, transthyretin-related, Dystransthyretinemic hyperthyroxinemia TWIST1 Craniosynostosis[genda.com.ar]

  • Coxa Vara

    […] deformity , Wallis Zieff Goldblatt syndrome ) knee ( Genu valgum , Genu varum ) other Arthrogryposis Skull and facial bones Carpenter syndrome - Craniodiaphyseal dysplasia - Craniosynostosis[wikidoc.org] […] non-inflammatory pattern of arthropathy involving the peripheral joints with typical coxa vara deformity were described, and in a few cases spine abnormalities, including kyphosis, lordosis[ncbi.nlm.nih.gov] If there is a bilateral involvement the child might have a waddling gait or trendelenburg gait with an increased lumbar lordosis.[en.wikipedia.org]

  • Craniofrontonasal Dysplasia

    Craniofrontonasal dysplasia's (CFND's) phenotypic range includes hypertelorism, coronal craniosynostosis, frontonasal dysplasia, and digital anomalies.[ncbi.nlm.nih.gov] […] present such as malformation of a long, flat, vertical bone in the center of the chest (sternum); malformation of the collarbone (clavicle); backward curvature of the spine (lordosis[cigna.com] Affected females had hypertelorism, broad nasal root, frontal bossing, craniosynostosis, syndactyly of toes and fingers, and vertical grooving of nails.[ncbi.nlm.nih.gov]

  • Costello Syndrome

    Spinal involvement included scoliosis, kyphosis, lordosis, and curvature reversal (thoracic lordosis and lumbar kyphosis).[ncbi.nlm.nih.gov] The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome[jmg.bmj.com] 12 FGFR3 dominant germline mutations can cause different types of chondrodysplasia (achondrodysplasia and hypochondroplasia, thanatophoric dysplasia, and SADDAN) or some craniosynostosis[jmg.bmj.com]

  • Macrocephaly

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

  • 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]

  • 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]

Further symptoms

Similar symptoms