facial paresis, hereditary congenital, 3

Facial paresis, hereditary congenital, 3 is a condition present at birth that primarily affects facial movement and is associated with variable hearing loss. It is caused by mutations in the HOXB1 gene, which play a critical role during craniofacial development. Affected individuals typically exhibit distinctive facial features and feeding difficulties from early life. Although precise prevalence estimates are not available, the condition is considered to be very rare.

The clinical presentation is characterized by a consistent set of facial and craniofacial anomalies. Key features include low-set ears, anteverted nares, a smooth philtrum, unilateral ptosis, and facial palsy, all noted to be present in nearly all affected individuals. In addition, other findings such as posteriorly rotated ears, an open mouth, a tented upper lip vermilion, a short nose, downturned corners of the mouth, a high palate, and feeding difficulties are routinely observed. Variable features such as epicanthus, micrognathia, and a short philtrum may occur in some individuals. Not all individuals experience all features, and severity varies considerably.

This condition is caused by pathogenic variants in the HOXB1 gene, which is crucial for normal facial and craniofacial development. It is inherited in an autosomal recessive pattern, meaning that affected individuals have inherited two mutated copies of the gene, one from each parent. This pattern implies that parents are likely carriers even if they do not show any symptoms, and genetic counseling is recommended to discuss the implications for family planning.

Currently, management focuses on supportive care and symptom management, with treatment plans tailored to the individual. A multidisciplinary care team, which may include specialists in craniofacial anomalies, feeding support, and hearing evaluation, plays an essential role in ongoing care. Regular surveillance is an integral part of long-term management, helping to detect complications early and address issues such as feeding difficulties promptly. Patients should discuss treatment options with their healthcare team to determine which strategies are most appropriate for their situation, and genetic counseling is recommended for affected families.

The overall course of facial paresis, hereditary congenital, 3 is variable, with outcomes that depend on the severity of the symptoms and the timing of intervention. With current standards of care, many individuals experience a satisfactory quality of life despite the challenges associated with facial weakness and associated feeding difficulties. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with the condition and to seek advice from genetic counselors. Severity and symptoms vary widely between individuals.