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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- Achondroplasia – Causes and Symptoms of Achondroplasia
- Angelman Syndrome – Causes and Symptoms of Angelman Syndrome
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