Apert syndrome is a congenital disorder characterized by symptoms such as craniofacial anomalies, severe symmetrical syndactyly, and craniosynostosis. In such patients, the reproductive fitness is low. First described by a French physician in 1906, these cases arise due to a new and rare mutation. Apert syndrome may be inherited as an autosomal dominant trait or be sporadic, which results from new mutations with parental age effect .
The etiology of Apert syndrome involves the specific substitution mutation of the adjacent amino acid in the linker between second and third immunoglobulin domains of FGFR2 (in 98% of cases). More rarely, Apert syndrome can be caused by insertion mutations or deletions, in or near exon 9 of FGFR2.
The rarity of the cases can be attributed to the reduced genetic fitness. In this syndrome, family history is usually insignificant, though paternal age has an effect in the etiology of this disease; age of the father greater than 50 years causes an increase the chance of Apert syndrome .
Racial dispensation is observed in patients with Apert syndrome. While Asians have the highest prevalence of this disease, this syndrome is lowest amongst Hispanics. This disease can be observed early as the newborn may have morphological conditions such as syndatyly in the hands and feet .
The genetic mutation in the FGFR2 gene involving the two adjacent amino acids causes Apert syndrome .
Surgery can assist the brain to develop normally, though there is a high chance of certain brain structures to remain poorly developed. Children with Apert syndrome, who are raised by the parents, develop higher intellectual ability. Though life expectancy in the children varies, those who have survived without any cardiac problems during their formative years can have normal or near-normal life expectancy.
Since molecular mechanism in this disease is specific, molecular analysis is useful in such patients.
Genetic counseling can be of help if there is a family history of the syndrome.
Apert syndrome is the genetic disorder which manifests as abnormal development of the skull, and distorted shape of face and head. Most of the children have several birth defects.
There is a rare and random mutation of the gene that causes Apert syndrome. Across the globe, only one in 65,000 babies is born with this disease.
Several symptoms are present in the patients with Apert syndrome. The defective gene allows the premature fusion of the skull bones known as craniosynostosis. The abnormal facial and skull growth leads to a head which is long, and have high forehead. Patients also have bulging eyes, and poor-closing eyes, with sunken middle face. Poor intellectual development, repeated ear, throat infections, obstructive sleep apnea, webbed hands or feet, and hearing loss are some other signs of the disease.
Genetic testing helps to identify the Apert syndrome. Imaging and laboratory studies can help diagnose Apert syndrome.
Though there is no cure for Apert syndrome, surgery can help to manage the multiple problems that result from the disease. The goal of the managing Apert syndrome is the treatment of the symptoms of the disease.