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At a glance

Typical facial asymmetry during crying that may be associated with significant systemic anomalies.

Synonyms

Cayler Cardiofacial Syndrome (if associated with cardiac lesions); Asymmetrical Crying Facies Cardiac Defect Syndrome; Hypoplasia of Depressor Anguli Oris Muscle Cardiac Defect Syndrome.

Incidence

Sporadic or familial occurrence has been reported. The estimated incidence is in the range of 2.5-8.2:1,000 live births. Cayler Syndrome is detected in 14% of patients with 22q11.2 deletion. Male-to-female ratio is up 2:1, although some studies have reported an even distribution or a female predominance.

Genetic inheritance

Either autosomal dominant or multifactorial polygenic inheritance. More than half of Cayler Syndrome patients have at least one relative with the identical condition. An association with deletion of chromosome 22q11.2 has been reported.

Diagnosis

Based on clinical and/or electromyographic findings. Affected infants suck well without drooling or spilling milk from either corner of the mouth and have normal bilateral forehead wrinkling, eyelid closure, and nasolabial fold depth, all of which exclude facial nerve palsy. Fluorescence in-situ hybridization (FISH) analysis is recommended for all patients with Cayler Syndrome to exclude chromosome 22q.11.2 microdeletions.

Clinical aspects

Cayler Syndrome refers to an asymmetric, unilateral lack of depression of the lower lip in neonates or infants present only during crying and due to predominantly (in up to three-quarters of patients) left-sided hypoplasia (or less common aplasia) of the depressor anguli oris muscle (the depressor labii inferioris muscle and mentalis muscle may also be affected in some cases). The anomaly may become less obvious later on in infancy. The facial asymmetry during crying results from unilateral, insufficient downward motion of the lip, which leads to exaggerated lower lip depression on the unaffected side, thereby accentuating the asymmetry. Facial electromyography revealed that approximately 20% of infants with Cayler Syndrome show conduction abnormalities that result from nerve compression/perinatal trauma (with a 90% chance of full spontaneous recovery over time), while 80% are due to facial muscle and/or nerve development issues presenting as muscle hypoplasia. Cayler Syndrome can be an isolated finding. However, major associated anomalies may occur in approximately 13% and should be excluded (although the reported frequency covers a wide range from 5 to 77%). These anomalies may involve most commonly the heart (in 44%; eg, conotruncal anomalies [eg, truncus arteriosus, tetralogy of Fallot, double-outlet right ventricle, double-outlet left ventricle, D-transposition of the great arteries, pulmonary atresia with ventricular septal defect, conoventricular septal defects, interrupted aortic arch type B], atrial septal defects), and the head (in 48%; eg, microcephaly, mental retardation, cerebral cortical atrophy, corpus callosum agenesis, microphthalmia, corneal clouding, dysplastic, low-set ears (with or without hearing loss), mandibular hypoplasia, micrognathia, retrognathia, high-arched or cleft palate, glossoptosis, anodontia). Visceral anomalies are present in up to 30% of patients (eg, situs inversus totalis, diaphragmatic hernia, tracheoesophageal ...

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