It is characterized by distinctive facial features, growth delays, and skeletal abnormalities. In this blog post, we'll explore the essential aspects of Floating Harbor syndrome, including its causes, symptoms, diagnosis, treatment, and prevention strategies.
Causes
Mutations in the SRCAP gene, which regulates gene expression and normal development, are the primary cause of Floating Harbor syndrome. In the majority of cases, Floating Harbor syndrome occurs sporadically, meaning that it occurs at random and is not inherited from parents. These mutations disrupt the normal function of the SRCAP gene. In some cases, the condition may be inherited as an autosomal dominant disorder, meaning that a mutation in one copy of the gene is sufficient to cause it.
Symptoms
It is possible to experience Floating Harbor syndrome in a variety of ways, but common symptoms include:
-
A triangular-shaped face, wide-set eyes, a broad and prominent nose, and a thin upper lip may be present.
-
As a result of delayed growth, children with Floating Harbor syndrome often have short stature compared to their peers.
-
Abnormalities of the skeleton include delayed bone age, scoliosis and abnormalities of the hands and feet.
-
Delays in developmental milestones, such as walking and talking, may occur in some individuals.
-
Individuals with mild to moderate intellectual disabilities may have varying degrees of intelligence.
Diagnosis
It is typically diagnosed through a combination of clinical evaluation, medical history assessment, and genetic testing.
-
In a physical examination, a healthcare provider will assess for characteristic facial features, growth parameters, and skeletal abnormalities.
-
Detailed medical history, including developmental milestones and family history of similar conditions, can provide valuable insight.
-
Floating Harbor syndrome can be diagnosed through genetic testing, such as targeted sequencing of the SRCAP gene.
Treatment
Treatment for Floating Harbor syndrome primarily focuses on managing symptoms and providing supportive care. Common treatment modalities include:
-
Comprehensive care may be provided by a multidisciplinary team of healthcare professionals, including geneticists, pediatricians, developmental specialists, and physical therapists.
-
Developmental delays can be addressed with early intervention services, such as physical therapy, occupational therapy, and speech therapy.
-
Complications of the syndrome can be treated, such as scoliosis or intellectual disability.
Prevention
There are no known strategies for preventing Floating Harbor syndrome, since it is primarily caused by genetic mutations. In order to understand the risks of passing on this condition to future generations and to explore family planning options, individuals with a family history of the syndrome may benefit from genetic counseling.
Floating Harbor syndrome is a rare genetic disorder characterized by distinctive facial features, growth delays, and abnormalities in the skeleton. This syndrome does not have a cure, but early detection and supportive care can help improve outcomes and quality of life. Families affected by the condition may find genetic testing and counseling helpful.
