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Diseases » Bowed legs » Glossary
 

Glossary for Bowed legs

  • Achondroplasia: A disorder characterized by problems with bone growth.
  • Blount disease: A bone developmental disorder that affects the shin bone (tibia) resulting in a progressive bow-legged appearance due to the inward facing angle of the shin bone. One or both legs may be affected.
  • Bone conditions: Conditions that affect the bones
  • Bone dysplasia with medullary fibrosarcoma: A rare inherited bone disorder characterized by aggressive bone tumors and defective bone development. The tumors metastasized readily.
  • Bowing of long bones congenital: A rare congenital disorder where the long bones in the arms and legs are abnormally bowed or shortened. The most common bones involved are the thigh, shin and forearm (ulna) bones. The deformity is often associated with other abnormalities.
  • Campomelia Cumming type: A rare syndrome characterized by limb and multiple abdominal organ abnormalities. The disorder results in death before birth or soon after.
  • Cartilage Hair Hypoplasia: A rare genetic disorder characterized by short stature, skeletal abnormalities and fine, fragile hair.
  • Cartilage-hair hypoplasia-like syndrome: A rare syndrome characterized by thin hair shafts, short stature, short limbs and other skeletal abnormalities. The condition is identical to the skeletal abnormality component of cartilage-hair hypoplasia syndrome.
  • Cerebrorenodigital syndrome with limb malformations and triradiate acetabula: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities as well as an abnormal hip socket.
  • Childhood hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate which results in loss of deciduous teeth before the age of 5 as well as muscle and bone problems - childhood onset.
  • Classical Potter syndrome: A term that describes the physical appearance that occurs when kidney disease results in a reduced volume of amniotic fluid. In the classical type, both kidneys are absent.
  • Congenital heart disease -- radio ulnar synostosis -- mental retardation: A very rare syndrome characterized mainly by heart disease at birth, fusion of forearm bones and mental retardation.
  • Del (4) (pter-p16 or p16.1): A very rare chromosomal disorder where a portion of the short arm (pter-p16 or p16.1) of the genetic material on chromosome four is missing. The type and severity of symptoms can vary depending on the exact size and location of the deleted genetic material.
  • Epiphyseal stippling syndrome -- osteoclastic hyperplasia: A rare syndrome characterized by abnormal bone development primarily affecting the long bones and lower spine.
  • Fraser-Jequier-Chen syndrome: A very rare disorder characterized by a cleft epiglottis and larynx, extra fingers and toes and kidney, pancreatic and bone abnormalities. The internal organs are also located on the opposite side of the body to normal (situs inversus totalis).
  • Genu varum: The presence of bowed legs - knees are apart and ankles are together while standing. Causes of the anomaly include certain intrauterine positions, rickets and various bone disorders.
  • Gnathodiaphyseal dysplasia: A rare genetic disorder affecting the skeleton and characterized by fragile bones, bowed long bones and recurring infections of the jaw bone.
  • Humerospinal dysostosis -- congenital heart disease: A very rare syndrome characterized mainly by various skeletal defects and heart disease which is present at birth.
  • Hypochondroplasia: A rare genetic disorder characterized by short stature which becomes more obvious during and after childhood.
  • Hypophosphatemia, Familial: An inherited disorder involving low blood phosphate levels due to problems with the transport of phosphate and problems with vitamin D metabolism. Vitamin D and phosphates are not properly absorbed from the kidneys which can lead to bone problems if not treated.
  • Hypophosphatemic rickets: A rare genetic type of rickets involving defective phosphate transport and vitamin D metabolism in the kidneys. Poor calcium absorption from the intestines leads to bone softening.
  • Juvenile Paget's Disease:
  • Limb conditions: Medical conditions affecting the upper or lower limbs.
  • Lower limb conditions: Any medical condition affecting the lower limbs, i.e. the legs, knees, feet, etc..
  • Maroteaux-Verloes-Stanescu syndrome: A very rare syndrome where abnormal bone development starts early in life and is fairly severe but after a few years, the bones return to almost normal. Adult height is nearly normal and bowed limbs usually straighten.
  • McKusick type metaphyseal chondrodysplasia: A rare genetic disorder characterized by short stature, skeletal abnormalities and fine, fragile hair.
  • Metaphyseal chondrodysplasia Spahr type: A rare genetic bone development disorder characterized mainly by bowed legs.
  • Multiple Hereditary Exostoses: An hereditary condition which is characterized by benign bony growths projecting from a bone surface
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Oncogenic osteomalacia: A rare type of cancer (mesenchymal) that results in osteomalacia or rickets. Osteomalacia and rickets normally occurs as a consequence of a diet deprived of vitamin D. The tumor can occur in bone or soft tissue. The removal of the tumor alleviates the osteomalacia.
  • Osteogenesis imperfecta Type I: A rare genetic connective tissue disorder characterized by fragile bones, blue sclerae and hyperextensible joints.
  • Osteogenesis imperfecta type IV: A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae. The osteoporosis tends to be moderate and there is generally no joint hyperextensibility.
  • Osteogenesis imperfecta, type 1A: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a type of osteogenesis imperfecta I where the teeth are opalescent and blue sclerae may be absent.
  • Osteogenesis imperfecta, type 1B: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a milder form of osteogenesis imperfecta I where the teeth are normal and blue sclerae may be absent.
  • Osteogenesis imperfecta, type 4: A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae - a form of OI involving moderate osteoporosis and no joint hyperextensibility.
  • Parastremmatic dwarfism: A rare disorder characterized by severe dwarfism, kyphoscoliosis, contractures of the large joints and twisted and bowed limb bones.
  • Potter syndrome: A term that describes the physical appearance that occurs when kidney disease results in a reduced volume of amniotic fluid.
  • Pseudoachondroplastic dysplasia 2: A very rare syndrome characterized mainly by retarded growth, short limbs and other skeletal deformities.
  • Renal osteodystrophy: Lack of bone mineralization due to kidney disease.
  • Renal rickets: A bone disease where kidney dysfunction causes bone resorption and results in weak, soft bones.
  • Rickets: A rare condition where a lack of Vitamin D results in bone disease as it is essential for the process of bone calcification.
  • Roy-Maroteaux-Kremp syndrome: A very rare syndrome characterized mainly by skin lesions abnormal bone development and spastic paraplegia.
  • Schwartz-Lelek syndrome: A syndrome characterized by various skeletal abnormalities.
  • Situs inversus totalis with cystic dysplasia of kidneys and pancreas: A rare syndrome where the position of the internal organs of the chest and abdomen is transposed. In addition there are kidney and pancreatic abnormalities.
  • Spondyloepimetaphyseal Dysplasia, Pakistani Type: A rare condition observed in a large family from Pakistani characterized by abnormal bone growth of a distinctive form.
  • Spondyloepimetaphyseal dysplasia, Missouri type: A rare skeletal disorder where the spine and long bones grow and develop abnormally. The Missouri type is characterized by bowed legs, short limbs and abnormal vertebral shape.
  • Spondylometaphyseal dysplasia -- cone-rod dystrophy: A rare syndrome characterized by skeletal abnormalities (spine and metaphyses) and an eye disorder. Vision impairment starts early in life and tends to progress but often stabilizes during adolescence.
  • Weismann-Netter-Stuhl Syndrome: A very rare inherited disorder characterized by bone development abnormalities.

 

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