Wieacker Syndrome is a rare genetic disorder characterized by intellectual disability, muscle weakness, and distinctive facial features. It is caused by mutations in the PIGA gene. Unfortunately, there is no specific ICD10 code assigned for Wieacker Syndrome. In the ICD9 coding system, it would fall under the general category of "Other specified congenital anomalies" with a code of 759.89.
Wieacker Syndrome, also known as Wieacker-Wolff Syndrome or Spondyloepimetaphyseal Dysplasia with Hypotrichosis (SEMDH), is a rare genetic disorder that affects multiple systems in the body. It is characterized by skeletal abnormalities, intellectual disability, and sparse hair (hypotrichosis).
Patients with Wieacker Syndrome typically present with a variety of clinical features, including:
Wieacker Syndrome is caused by mutations in the NR2F2 gene, which is located on the X chromosome. It follows an X-linked recessive inheritance pattern, meaning the condition primarily affects males. Females who carry a single copy of the mutated gene may have mild or no symptoms.
The diagnosis of Wieacker Syndrome is based on clinical features, family history, and genetic testing. A thorough physical examination, including evaluation of skeletal abnormalities and hair characteristics, is important. Genetic testing can confirm the presence of NR2F2 gene mutations.
The International Classification of Diseases, Tenth Revision (ICD-10) is a coding system used for classifying diseases and medical conditions. The ICD-10 code for Wieacker Syndrome is Q87.1.
The International Classification of Diseases, Ninth Revision (ICD-9) was previously used for coding medical conditions. The equivalent ICD-9 code for Wieacker Syndrome is 756.4.
As of now, there is no specific cure for Wieacker Syndrome. Treatment is focused on managing the symptoms and providing supportive care. This may involve a multidisciplinary approach, including regular monitoring of growth and development, physical therapy, occupational therapy, and educational interventions tailored to the individual's needs.
The prognosis for individuals with Wieacker Syndrome varies depending on the severity of symptoms. Some individuals may have a relatively mild course with minimal impact on daily functioning, while others may experience more significant challenges. Early intervention and ongoing medical management can help optimize outcomes and improve quality of life.
Wieacker Syndrome is a rare genetic disorder characterized by skeletal abnormalities, intellectual disability, and hypotrichosis. It is caused by mutations in the NR2F2 gene and primarily affects males. The ICD-10 code for Wieacker Syndrome is Q87.1, while the equivalent ICD-9 code is 756.4. Although there is no cure, supportive care and early intervention can help manage symptoms and improve outcomes for individuals with this condition.