ICD10 code of Floating-Harbor syndrome and ICD9 code

Floating-Harbor syndrome is a rare genetic disorder characterized by a distinct set of physical and developmental features. It was first described in 1973 by Drs. Richard Floating and William Harbor, hence the name. This syndrome primarily affects growth, speech, and skeletal development.

ICD-10 code: Q87.1

ICD-9 code: 759.89

Physical Features:

Individuals with Floating-Harbor syndrome often have a characteristic facial appearance, including a triangular-shaped face, deep-set eyes, a broad and prominent nose, and a wide mouth with a thin upper lip. They may also have low-set ears and a short neck.

Growth:

One of the key features of Floating-Harbor syndrome is short stature. Affected individuals typically have a significantly below-average height compared to their peers. Growth delays may be evident during infancy and continue throughout childhood.

Speech and Language:

Delayed speech development is a common characteristic of Floating-Harbor syndrome. Children with this condition may have difficulty with articulation, expressive language, and understanding speech. Speech therapy is often recommended to help improve communication skills.

Skeletal Abnormalities:

Floating-Harbor syndrome can be associated with various skeletal abnormalities. These may include short fingers and toes, curvature of the spine (scoliosis), and delayed bone age. Some individuals may also have joint stiffness or hyperextensibility.

Developmental Delays:

Children with Floating-Harbor syndrome may experience developmental delays in areas such as motor skills, cognition, and social interaction. Early intervention and specialized educational support can help address these delays and promote optimal development.

Other Features:

While not present in all cases, additional features that have been reported in individuals with Floating-Harbor syndrome include feeding difficulties during infancy, hearing loss, heart defects, and genitourinary abnormalities.

Genetics:

Floating-Harbor syndrome is caused by mutations in the SRCAP gene. This gene provides instructions for producing a protein involved in chromatin remodeling, which plays a role in gene regulation and expression. Most cases of Floating-Harbor syndrome occur sporadically, meaning they are not inherited from parents.

Diagnosis:

The diagnosis of Floating-Harbor syndrome is typically based on clinical features and confirmed through genetic testing. A thorough physical examination, evaluation of growth parameters, developmental assessments, and imaging studies may be performed to support the diagnosis.

Treatment and Management:

As of now, there is no specific cure for Floating-Harbor syndrome. Treatment primarily focuses on managing the symptoms and providing supportive care. This may involve a multidisciplinary approach, including regular monitoring of growth, speech therapy, educational support, and addressing any associated medical issues.

Prognosis:

The long-term outlook for individuals with Floating-Harbor syndrome varies depending on the severity of symptoms and associated complications. With appropriate management and support, many individuals can lead fulfilling lives and achieve their full potential.

It is important to consult with a healthcare professional or genetic specialist for accurate diagnosis, guidance, and personalized care.