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Achard syndrome
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Achard syndrome | |
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Achard syndrome is inherited in an autosomal dominant manner |
Achard syndrome is a syndrome consisting of arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. Hypermobility and subluxations of the joints, increased lateral excursion of the patellas and other findings reflect the increased ligament laxity. It is clinically similar to Marfan syndrome.
Symptoms
Presentation is the following:
- Small thumbs
- Joint laxity in hands
- Joint laxity in feet
- Brachycephaly
- Short mandibular rami
Diagnosis
Treatment
Further reading
- Achard C (1902). "Arachnodactylie". Bulletins et Mémoires de la Société Médicale des Hôpitaux de Paris. 19: 834–840.
- Duncan PA (1975). "The Achard syndrome". Birth Defects Original Article Series. 11 (6): 69–73. PMID 1201353.
- PARISH JG (1960). "Skeletal syndromes associated with arachnodactyly". Proceedings of the Royal Society of Medicine. 53: 515–8. PMC 1870110. PMID 14430455.
- Parish JG (1967). "Skeletal hand charts in inherited connective tissue disease". Journal of Medical Genetics. 4 (4): 227–38. doi:10.1136/jmg.4.4.227. PMC 1468561. PMID 6082898.
External links
Classification |
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