Create issue ticket

320 Possible Causes for Flattening of the Talar Dome, Genu Varum, Mutation in the PHEX Gene

  • X-Linked Hypophosphatemia

    It can cause bone deformity including short stature and genu varum (bow leggedness).[checkorphan.org] To date, 131 mutations in the PHEX gene have been reported.[ncbi.nlm.nih.gov] […] shortening of the talar neck and flattening of the talar dome.[ncbi.nlm.nih.gov]

  • Familial Hypophosphatemia

    In infants and children, the signs and symptoms include: Abnormal "waddling" walk due to knock-knees (genu valgum) or bowed legs (genu varum) Thick wrists Ribs of the chest[dovemed.com] X-linked dominant hypophosphatemic rickets, due to mutations in the PHEX gene, is the most common inherited form of the disorder.[genedx.com] Pigeon breast, rachitic rosary, bracelet-like abnormality, X-leg, and genu varum were not found.[academic.oup.com]

    Missing: Flattening of the Talar Dome
  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    Genu varum bilateral. No additional pathological findings.[revistanefrologia.com] This process is due to mutations in the FGF23 and PHEX gene.[ivami.com] In the last appointment of the regular visits, the patient did not present changes in gait; however, there were some skeletal changes: genu-varum, upper limb arching, Olympic[scielo.br]

    Missing: Flattening of the Talar Dome
  • Tibia Varum

    […] with genu varum have similar outcomes to those who undergo simple tibia vara correction?[ncbi.nlm.nih.gov] Genetic testing attributed the condition to mutations in the PHEX gene located at Xp22.1.[smw.ch] It is associated with a mutation in the PHEX gene sequence (Xp.22) and subsequent inactivity of the PHEX protein. The prevalence of the disease is 1:20000.[findzebra.com]

    Missing: Flattening of the Talar Dome
  • Hypophosphatemia

    varum, rachitic rosary...).[orpha.net] Etiology The disease is caused by various mutations in the PHEX gene (Xp22.1) and is transmitted as an X-linked dominant trait with complete penetrance, but variable expressivity[orpha.net] Clinical description XLH manifests during childhood with typical clinical features of rickets such as short stature, bone pain, and skeletal deformities (bowed legs, genu[orpha.net]

    Missing: Flattening of the Talar Dome
  • Vitamin D Deficiency

    However, severe vitamin D deficiency may manifest as rickets with the below clinical features: Bony Signs - Swelling of wrists and ankles - Leg deformities (genu varum or[starship.org.nz] […] in the PHEX gene.[ncbi.nlm.nih.gov] […] his lower extremities, and was ultimately diagnosed with X-linked hypophosphatemic rickets, a disorder caused by renal wasting of phosphate that occurs as a result of a mutation[ncbi.nlm.nih.gov]

    Missing: Flattening of the Talar Dome
  • Childhood-Onset Hypophosphatasia

    Mutations in the PHEX gene were identified in all the patients thus confirming an XLHR.[researchgate.net] PHEX gene mutations were found in all the HR cases analyzed, which was in contrast with other cohort studies.[researchgate.net] The most common form of HR is X-linked dominant HR (XLHR) which is caused by inactivating mutations in the PHEX gene.[researchgate.net]

    Missing: Flattening of the Talar Dome
  • Hypophosphatemic Rickets and Hyperparathyroidism

    varum ) & rachitic changes in the long bones; - ht at initial dx is usually - coxa vara is also common in untreated patients; - in some affected patients, the disorder is[wheelessonline.com] We describe a patient with XLH, caused by a rare missense mutation of the PHEX gene.[scienceopen.com] Etiology The disease is caused by various mutations in the PHEX gene (Xp22.1) and is transmitted as an X-linked dominant trait with complete penetrance, but variable expressivity[orpha.net]

    Missing: Flattening of the Talar Dome
  • Pseudoachondroplasia

    With age, her rhizomelic dwarfism became increasingly visible, and since completed 15 months of age, when she started to walk, the disease was complicated with genu varum,[ncbi.nlm.nih.gov] Legs are malaligned with a variety of knee deformities noted, including bow-legs (genu varum), knock-knees (genu valgum), and windswept deformities (bow-leg on one side and[web.archive.org] […] pseu·do·a·chon·dro·pla·si·a ( sū'dō-ă-kon'drō-plā'sē-ă ), A skeletal dysplasia characterized by short-limb dwarfism with leg deformities associated with genu varum or genu[medical-dictionary.thefreedictionary.com]

    Missing: Flattening of the Talar Dome Mutation in the PHEX Gene
  • Achondroplasia

    Typically, patients with achondroplasia who experience knee pain are evaluated for more common and well-known etiologies such as genu varum, ligamentous instability, and neurogenic[ncbi.nlm.nih.gov] Note squaring of the iliac wings (tombstone pelvis), flattening of the acetabular angles (yellow arrows), genu varum deformities (white arrows) with widened but shorter femurs[learningradiology.com] VARUM, and trident hand.[fpnotebook.com]

    Missing: Flattening of the Talar Dome Mutation in the PHEX Gene

Similar symptoms