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Results 1 - 7 of 7 for Congenital kyphoscoliosis
  1. Congenital contractural arachnodactyly 
    ... hips, knees, ankles, or elbows. Additional features of congenital contractural arachnodactyly include underdeveloped muscles, a rounded upper back that also curves to the side (kyphoscoliosis), permanently bent fingers and toes (camptodactyly), ears that ...
    https://medlineplus.gov/.../congenital-contractural-arachnodactyly - Genetics
  2. TRPV4 gene 
    ... and back-to-front curvature of the spine (kyphoscoliosis), and other ... 2C, congenital distal spinal muscular atrophy, which is characterized by ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  3. PMM2-congenital disorder of glycosylation 
    ... peripheral neuropathy), an abnormal curvature of the spine (kyphoscoliosis), impaired muscle coordination (ataxia), and joint deformities (contractures). ...
    https://medlineplus.gov/...pmm2-congenital-disorder-of-glycosylation - Genetics
  4. STAC3 disorder 
    ... of the spine (scoliosis or kyphosis, often called kyphoscoliosis when they occur together). Affected individuals tend to ... show signs and symptoms of the condition. Myopathy, congenital, Bailey-Bloch Myopathy, congenital, with myopathic facies, scoliosis, ...
    https://medlineplus.gov/genetics/condition/stac3-disorder - Genetics
  5. Central core disease 
    ... upper back that also curves to the side (kyphoscoliosis), foot deformities, hip dislocation, and joint deformities called ... thought to be the most common of the congenital myopathies, which are a group of muscle disorders ...
    https://medlineplus.gov/genetics/condition/central-core-disease - Genetics
  6. X-linked chondrodysplasia punctata 2 
    ... sides, and progressive abnormal curvature of the spine (kyphoscoliosis). As a result of these abnormalities, people with ... JC, Rope AF. A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am ...
    https://medlineplus.gov/.../x-linked-chondrodysplasia-punctata-2 - Genetics
  7. Abetalipoproteinemia 
    ... upper back that also curves to the side (kyphoscoliosis), high-arched feet (pes cavus), or an inward- ... Kornzweig disease Bassen-Kornzweig syndrome Betalipoprotein deficiency disease Congenital betalipoprotein deficiency syndrome Microsomal triglyceride transfer protein deficiency ...
    https://medlineplus.gov/genetics/condition/abetalipoproteinemia - Genetics