Achard Syndrome

At a glance

Inherited connective tissue disorder, characterized mainly by brachycephaly, micrognathia, arachnodactyly, widespread dysostoses, and joint laxity of the hands and feet.

History

First described in 1902 by the French internist Emile Charles Achard.

Genetic inheritance

Autosomal dominant trait.

Diagnosis

Based on the clinical findings of marfanoid appearance (slender habitus, joint laxity, and arachnodactyly), brachycephaly (the ratio between head width [transverse diameter] and head length [sagittal diameter] is called the cephalic index, which is increased, ie, flat occiput and increased biparietal diameter) and micrognathia.

Clinical aspects

Despite similarities, Achard and ☞Marfan Syndromes are different entities. Achard Syndrome is characterized by widespread dysostoses typically affecting the tubular bones of hands and feet, the calvarium, and mandibular rami (but can also affect other parts of the skeleton). Ligament laxity manifests as hypermobility and/or subluxations of the joints (most commonly of hands and feet) and the patella with increased lateral excursion. Arachnodactyly of hands and feet are observed. The skull is broad and brachycephalic, often with micrognathia. In contrast to Marfan Syndrome, the body proportions are normal and most of these patients are not tall. Furthermore, patients with Achard Syndrome lack the eye and cardiovascular abnormalities of Marfan Syndrome.

Precautions before anesthesia

Assess the airway for signs of difficult management.

Anesthetic considerations

Micrognathia and mandibular dysostoses may result in difficult airway management. In case of suspected difficult tracheal intubation, maintenance of spontaneous ventilation is recommended until the airway has been secured. Alternative airway management options should be immediately available (eg, supraglottic airway device, fiberoptic bronchoscope), and adherence to an established difficult airway algorithm is advised. Awake fiberoptic intubation should be considered. Careful patient positioning is required to avoid (sub-)luxations of the joints and pressure sores from dysostoses (calvarium).

Pharmacological implications

None specific to this disorder.

Other condition to be considered

• ☞Marfan Syndrome: Familial, generalized connective tissue disorder 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 pneumothorax.

References