Alopecia-Contractures-Dwarfism Mental Retardation Syndrome

At a glance

Alopecia and severe growth retardation associated with thoracic kyphoscoliosis, bilateral dislocated hips, and joint contractures (elbows, fingers, knees). The presence of turridolichocephaly and a prominent nose are clinical clues that usually guide toward the diagnosis.

Synonym

ACD Mental Retardation Syndrome.

Incidence

Fewer than 10 cases have been reported.

Genetic inheritance

Autosomal recessive. Consanguinity has been reported in the parents of at least two patients.

Diagnosis

Turridolichocephaly and a prominent nose associated with severe growth retardation and alopecia are the most frequent clinical features.

Clinical aspects

The most common clinical findings are turridolichocephaly, prominent nose, large and soft ears, alopecia (partialis or totalis), severe growth retardation with thoracic kyphoscoliosis, bilateral dislocation of the hips, joint contractures, and mild syndactyly with a short fifth digit. Telecanthus and marked myopia are present in some patients. Mental retardation is severe, with an intelligence quotient (IQ) of approximately 40. Enamel dysplasia results in severe and multiple cavities. Less frequent features include ichthyosis, hidrotic ectodermal dysplasia, hypolacrimation, hypohidrosis, optic nerve atrophy with photophobia, autoimmune thyroiditis, multiple skeletal anomalies (fusions of elbows, carpals, metacarpals, spine), and recurrent respiratory infections.

Precautions before anesthesia

Assess clinically the degree of kyphoscoliosis and obtain pulmonary function tests if the degree of kyphoscoliosis is significant. Obtain a chest radiograph. Arterial blood gas analysis may be helpful in assessing ventilation in the presence of recurrent aspirations/infections and/or kyphoscoliosis. Check the mobility of the neck because vertebral fusion may result in difficult tracheal intubation if the fusion affects the cervical spine. If kyphoscoliosis is severe, postoperative mechanical ventilation may be necessary.

Anesthetic considerations

Mental retardation often results in limited cooperation, and sedation prior to induction of anesthesia may be helpful. Careful direct laryngoscopy is needed to prevent damage to already compromised teeth. Careful positioning of the patient is required in view of kyphoscoliosis and joint contractures. Avoid aggressive warming of the patient if hypohidrosis is present. Keep the eyes well lubricated during anesthesia (hypolacrimation). Vascular access may be challenging, depending on the severity of the skin changes.

Pharmacological implications

There are no specific implications with this condition.

References