Congenital microtia is caused by abnormal development of the first and second gill arches during early embryonic development. The incidence rate abroad ranges from 0.83/10,000 to 17.4/10,000, while there are no epidemiological statistics in China at present. The majority of congenital microtia are disseminated, and only 2.9-33.8% are due to genetic factors. Congenital microtia is usually unilateral in 80% of patients, with right-sided ear deformities accounting for 60% of all unilateral ear deformities. The epidemiological factors associated with congenital microtia are: high birth age, high productivity, prematurity, low birth weight infants, multiple births, multiple abortions, maternal diabetes, high altitude, and ethnic factors, as well as viral infections, drug applications, and chemical exposures in early maternal pregnancy. Patients with congenital microtia are often accompanied by malformations and developmental abnormalities of other tissues and organs, and such malformations and developmental abnormalities are most common in patients with bilateral ear malformations. The following is a brief list of these associated symptoms: external auditory canal stenosis, external auditory atresia, abnormal mandibular development, micrognathia (i.e., usually a small chin), ocular tissue defect or ocular malformation, cleft lip and palate, facial nerve dysfunction (usually manifested as facial expression and asymmetry of both faces), congenital heart disease, kidney-related malformations, spinal defects, developmental delays, and abnormal genital development. The following is a brief description of some common congenital microtia-related syndromes, which may provide further guidance for the improvement of the clinical examination. Treacher Collins syndrome (TCS) is an autosomal dominant disorder with an incidence of approximately 1 in 50,000, with more than 60% of patients being disseminated, and is caused by mutations in the TCOF1 gene. The syndrome is characterized by various types of microtia combined with stenosis or atresia of the external auditory canal, facial deformities, eyelid fissures, lower eyelid defects with partial eyelash loss, mandibular anomalies, abnormal zygomatic bone development, and small jaw deformities. Charge syndrome is a rare autosomal dominant disorder, usually disseminated, with a prevalence of roughly 1/10,000. Nearly 2/3 of patients have a mutation in the CHD7 gene, and the main features of this syndrome are: ocular tissue defects (iris, choroid, retina), posterior nostril stenosis, external ear deformities (external ear defect or cup ear, malformation of the middle ear auditory tuberosity, chronic plagiocephalic otitis media cochlear defects, etc.), and facial nerve dysfunction. Some of the less common secondary features are genital hypoplasia, individual growth retardation, cardiac malformations, and orofacial defects. Therefore, in order to confirm the diagnosis of the disease, ophthalmologic-related examinations, cardiac ultrasound, and high-resolution CT of the temporal bone are also required. Branchio-oculo-facial syndrome (BOFS) is a rare genetic disorder of unknown incidence, caused by mutations in the TFAP2A gene, and is characterized by thin skin defects around the neck and ears, eye deformities (small eyes, eye tissue defects, cataracts, nasolacrimal duct obstruction), facial deformities (thick nasal tip, droopy eyelids, cleft lip). Branchio-Oto-Renal syndrome, or cheek-ear-renal syndrome (BORS), is a common dominant genetic disorder with a prevalence of approximately 1 in 40,000, and is thought to be caused by mutations in the EYA1 and SIX5 genes. The primary features are: cheek deformity, deafness, preauricular recess, and renal deformity, and secondary features are: external ear deformity, middle ear deformity, inner ear deformity, preauricular redundancy, and facial deformity, etc. In patients with BORS, specific renal-related conditions are pending renal ultrasound examination. These are some of the common clinical syndromes among congenital microtia patients seen in our department. Those with specific features are usually caused by genetic mutations, and it is necessary to complete relevant clinical tests to confirm the diagnosis. However, parents should not be overly concerned because the number of patients with this syndrome is only a small minority of the patient population.