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111 Possible Causes for Mild Coxa Vara, Mutation in the Collagen X Alpha 1 Polypeptide Gene

  • Schmid Metaphyseal Chondrodysplasia

    We studied a family with SMCD: the mother, a 36-year-old woman with a height of 149 cm, had mild bilateral coxa vara.[ncbi.nlm.nih.gov] The cardinal features of the phenotype are mild short stature, coxa vara and a waddling gait.[genecards.org] The consequence of COL10A1 mutations is the bowing and the shortening of the long bones, coxa vara being usually observed.[intechopen.com]

  • Coxa Vara

    A slight modification of this system includes: idiopathic: congenital: mild or severe coxa vara, with associated congenital anomalies: see associations developmental: progressive[radiopaedia.org]

    Missing: Mutation in the Collagen X Alpha 1 Polypeptide Gene
  • Micrognathism

    Associated skeletal abnormalities include short stature, scoliosis, genu valgum, pes planus, a wide pubic symphysis, dysplastic scapulae, and coxa vara, generally with little[findzebra.com] […] in the collagen I, alpha-1 polypeptide gene (COL1A1, 120150.0026); Caused by mutation in the collagen I, alpha-2 polypeptide gene (COL1A2, 120160.0001) Renpenning syndrome[findzebra.com] Secondary complications include recurrent infections of the upper respiratory tract, sleep apnea, mild motor delay and variable degrees of hearing loss.[findzebra.com]

  • Cystitis

    Coxa vara and mild spinal changes are also associated.[ncbi.nlm.nih.gov] Degenerative changes  degenerative changes in developmental coxa vara appear in upto 28.5 % of the patients.  develop late (after the age of 30-40 years) and in 15.8% of[slideshare.net] ., splaying, flaring, cupping); shortening of the tubular bones; widened growth plates; coxa vara; and anterior cupping, sclerosis, and splaying of the ribs.[ncbi.nlm.nih.gov]

    Missing: Mutation in the Collagen X Alpha 1 Polypeptide Gene
  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    coxa vara.[ncbi.nlm.nih.gov] coxa vara, a sharp, high-pitched voice and a social personality (see Figure 1 ).[jmedicalcasereports.biomedcentral.com] Mild hypoplasia of ossa ilea,marked coxa vara bilaterally, and hypoplastic femoralheads were apparent on X-ray examination.[myslide.es]

    Missing: Mutation in the Collagen X Alpha 1 Polypeptide Gene
  • Spondyloepiphyseal Dysplasia Congenita

    Herein, we describe a unique case of SEDC with mild coxa vara (SEDC-M) caused by double de novo COL2A1 mutations located on the same allele.[ncbi.nlm.nih.gov] The 2 types of the disease are the mild coxa vara form, with height maintained (as in our patient) and the severe coxa vara form, with clinical short stature.[consultant360.com] SEDC, including both mild and severe coxa vara (SEDC-M and SEDC-S), is the most severe form of hypogenesis of the femoral head.[journals.plos.org]

    Missing: Mutation in the Collagen X Alpha 1 Polypeptide Gene
  • Femoral Neck Fracture

    A plain X-ray showed an old united fracture of the neck of the left femur with coxa magna, mild coxa vara and mild secondary osteoarthritis of the left hip joint.[ncbi.nlm.nih.gov]

    Missing: Mutation in the Collagen X Alpha 1 Polypeptide Gene
  • Cystocele

    A slight modification of this system includes: idiopathic: congenital: mild or severe coxa vara, with associated congenital anomalies: see associations developmental: progressive[radiopaedia.org] Coxa vara and mild spinal changes are also associated.[ncbi.nlm.nih.gov] Degenerative changes  degenerative changes in developmental coxa vara appear in upto 28.5 % of the patients.  develop late (after the age of 30-40 years) and in 15.8% of[slideshare.net]

    Missing: Mutation in the Collagen X Alpha 1 Polypeptide Gene
  • Chronic Fatigue Syndrome

    A slight modification of this system includes: idiopathic: congenital: mild or severe coxa vara, with associated congenital anomalies: see associations developmental: progressive[radiopaedia.org]

    Missing: Mutation in the Collagen X Alpha 1 Polypeptide Gene
  • Coxa Valga

    A slight modification of this system includes: idiopathic: congenital: mild or severe coxa vara, with associated congenital anomalies: see associations developmental: progressive[radiopaedia.org]

    Missing: Mutation in the Collagen X Alpha 1 Polypeptide Gene

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