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Acrodysostosis – Causes and Symptoms of Acrodysostosis

Acrodysostosis is a disorder of the skeletal system charecterized by short and malformed bones of the feet and hands and the nose is not developed well. The physical growth delays as a result they are short statured. The head and the facial features include a underdeveloped upper jaw bone and a pug nose or an extra fold of skin on either side of the nose and it covers the eyes inner corners. It is a rare syndrome that happens to 1 in 1000 people. In this condition the person suffers from mental disorder. This disorder is also called Acrodysplasia.

Causes of Acrodysostosis
The causes of Acrodysostosis include:

  • This disorder is a genetic disorder though the real cause is not known.
  • There can be a number of genetic problems behind its occurrence.
  • This is known to happen with older people but this disease has no hereditary routes.
  • In some cases, the disease is passed down to a child from his/her parents.
  • Parents who have this disorder has 50% possibility of transmitting this disorder to their children.
  • The exact gene that causes this disease has not be identified.

Symptoms of Acrodysostosis
The signs and symptoms include:

  • Growth deficiency
  • Mental deficiency
  • Hearing deficit
  • Low nasal bridge
  • Small upturned
  • Hypo plastic maxilla
  • Increased mandibular angle
  • Progressive deformity in distal humerus, radius and ulnar bones
  • Cone shaped epiphyses
  • Broad hands
  • Large big toe
  • Lack of normal caudal widening of lumbar interpedicular distance
  • Small canal stenosis
  • Scoliosis
  • Epiphyseal stippling of lumbosacral vertebral bodies, carpus, tarsus, humerus, phalanges, knees and hips
  • Short stature
  • Low I Q
  • Brachycephaly
  • Broad nose
  • Mouth often held open
  • Projecting jaw
  • Short hands and lower limbs
  • Prematurely fused hand and foot epiphysis
  • Vertebral defects
  • Small vertebrae
  • Advanced bone age
  • Wrinkled dorsal skin

When to consult your doctor?
Consult your doctor when you find the above signs and symptoms immediately as treatment can reduce some of the symptoms.

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