Achard Syndrome
Achard Syndrome 10
General: All features of Marfan syndrome, with the addition of dysostosis mandibulofacialis; arachnodactyly; receding lower jaw; joint laxity limited to the hands and feet; differs from Marfan syndrome in that the skull is broad and brachycephalic with small mandible.
Ocular: Myopia; lens dislocation; spherophakia.
Clinical: Mandibulofacial dysostosis; skeletal anomalies; arachnodactyly; high arched palate; heart disease.
Achard D. Arachnodactylie. Bull Mem Soc Med Hop Paris 1902; 19:834.
Jackson LG. Genetic principles for the ophthalmologist. Trans Am Acad Ophthalmol Otolaryngol 1974; 27:20.
Magalini SI, Scrascia E. Dictionary of medical syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.
McKusick VA. Mendelian inheritance in man, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
General: All features of Marfan syndrome, with the addition of dysostosis mandibulofacialis; arachnodactyly; receding lower jaw; joint laxity limited to the hands and feet; differs from Marfan syndrome in that the skull is broad and brachycephalic with small mandible.
Ocular: Myopia; lens dislocation; spherophakia.
Clinical: Mandibulofacial dysostosis; skeletal anomalies; arachnodactyly; high arched palate; heart disease.
Achard D. Arachnodactylie. Bull Mem Soc Med Hop Paris 1902; 19:834.
Jackson LG. Genetic principles for the ophthalmologist. Trans Am Acad Ophthalmol Otolaryngol 1974; 27:20.
Magalini SI, Scrascia E. Dictionary of medical syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.
McKusick VA. Mendelian inheritance in man, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
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