Cayler Syndrome

Typical asymmetry during crying associated with visceral malformations.

Asymmetrical Crying Facies with Cardiac Defect; Cayler Type of Cardiofacial Syndrome; Hypoplasia of Depressor Anguli Oris Muscle with Cardiac Defect.

Sporadic or familial disorder. Estimates vary between 0.63% and 0.82% of the general population. Male-to-female ratio 2:1.

Either autosomal dominant or multifactorial. An association with pericentric inversion of chromosome 15 and with deletion of chromosome 22q11.2 has been reported.

Congenital hypoplasia or agenesis of the depressor anguli oris muscle on one side of the mouth results in facial asymmetry that is evident during crying.

Based on clinical and/or electromyographic findings. Affected infants suck well without drooling from either corner of the mouth and have normal forehead wrinkling, eye closure, and nasolabial fold depth, all of which exclude facial nerve palsy.

Unilateral asymmetry of the face during crying, because of predominantly left-sided defects of the depressor anguli oris. Associated anomalies involve the head (mental retardation, microcephaly, cerebral cortical atrophy, prominent ears, micrognathia, retrognathia, cleft palate, anodontia), the heart (atrial septal defects, ventricular septal defects, conotruncal anomalies, and tetralogy of Fallot), and the viscera (respiratory distress, diaphragmatic hernia, polycystic kidneys, hydronephrosis, hypoplasia of kidneys, ectopic testes). Short stature has been described. Hypoparathyroidism and hypocalcemia have been reported in at least one patient.

Thoroughly assess the patient for signs of cardiac lesions (clinically, echocardiography, electrocardiogram) and renal anomalies and insufficiency (ultrasound, blood work). Check for difficult airway management. Mental retardation may impair cooperation. Sedative and/or anxiolytic premedication and the presence of the primary caregiver during induction of anesthesia may be helpful.

Given the anatomical anomalies of the face, airway management must be expected to be difficult. The recommendation is to maintain spontaneous ventilation until the airway has been secured. Alternative airway management techniques should be considered (e.g., fiberoptic intubation, laryngeal mask airway). Congenital cardiac defects require specific anesthetic precautions and management.

Avoid neuromuscular blockers until the airway has been secured. Subacute bacterial endocarditis prophylaxis may be necessary.

DiGeorge Syndrome: a genetic defect leading to a wide range of phenotypic presentations, mainly developmental defects in the outflow tracts of the heart, hypoparathyroidism with hypocalcemia, and thymic aplasia or hypoplasia with immune defects.