Inherited disorder of the connective tissue,
characterized mainly by brachycephaly, arachnodactyly, widespread
dysostoses, increased ligament laxity, receding lower jaw (micrognathia),
and joint laxity of the hands and feet.
First described in 1902 by Emile Charles Achard, a French
Autosomal dominant trait.
Based on the clinical findings of brachnodactyly,
micrognathia, and broad and brachycephalic skull.
Despite similarities, Achard syndrome and Marfan
syndrome are different entities. Achard syndrome is a well-defined clinical
entity characterized by widespread dysostoses most consistently affecting
the tubular bones of the hands and feet, mandible, and calvaria, but it can
occur anywhere in the skeleton. Ligament laxity manifests as hypermobility
and/or subluxations of the joints (most commonly hands and feet) and
increased lateral excursion of the patella. The skull is broad and
brachycephalic, the lower jaw is small and receding, and the hands and feet
show arachnodactyly. Body proportions are normal; however (in contrast to
Marfan Syndrome), most of these patients are known for not being tall.
Patients with Achard syndrome lack the eye and heart abnormalities and the
subnormal subcutaneous fat.
Assess the airway for signs of
Micrognathia may make airway management
difficult. Spontaneous ventilation should be maintained until the
airway has been secured. Careful patient positioning is required to
avoid (sub)luxations of the joints.
No known specific implications with
Marfan Syndrome: Familial disorder of generalized connective
tissue abnormalities leading to connective tissue weakness associated with
hyperextensible joints, dislocation of the lens, increased risk of valvular
heart disease, risk of dissecting aortic aneurysm, and spontaneous
Parish JG: Heritable disorders of connective tissues with arachnodactyly.
Proc R Soc Med
Duncan PA: The Achard syndrome. Birth Defects Orig Artic Ser