Schinzel Syndrome, also known as Schinzel-Giedion Syndrome, is a rare genetic disorder characterized by multiple physical and developmental abnormalities. It was first described by Schinzel and Giedion in 1978. The syndrome is caused by a mutation in the SETBP1 gene, which plays a role in regulating gene expression and cell growth.
Individuals with Schinzel Syndrome typically exhibit distinct facial features including a prominent forehead, widely spaced eyes, a broad nasal bridge, and a small chin. They may also have a short neck, low-set ears, and a small mouth. Additionally, affected individuals often experience severe intellectual disability and developmental delay. They may have limited or absent speech, and some may develop seizures.
Other common features of Schinzel Syndrome include skeletal abnormalities such as short stature, scoliosis (curvature of the spine), and joint contractures. Many individuals also have abnormalities of the urinary tract, heart defects, and gastrointestinal problems. Due to the severity of the condition, individuals with Schinzel Syndrome often have a shortened lifespan.
The International Classification of Diseases, Tenth Revision (ICD-10), is a coding system used to classify and categorize diseases and disorders. Unfortunately, Schinzel Syndrome does not have a specific ICD-10 code. However, the condition may be classified under broader categories such as "Other specified congenital malformations" (Q89.8) or "Other specified disorders of intellectual development" (F79.8).
On the other hand, the International Classification of Diseases, Ninth Revision (ICD-9), was the previous coding system used before the implementation of ICD-10. Similarly, Schinzel Syndrome does not have a specific ICD-9 code. It may have been classified under broader categories such as "Other specified congenital anomalies" (759.89) or "Unspecified mental retardation" (317).
It is important to note that the ICD-10 and ICD-9 codes mentioned above are not specific to Schinzel Syndrome but rather provide a general classification for conditions with similar characteristics. Proper diagnosis and coding should be done by a qualified healthcare professional based on the individual's specific symptoms and medical history.
Overall, Schinzel Syndrome is a rare genetic disorder characterized by multiple physical and developmental abnormalities. While it does not have a specific ICD-10 or ICD-9 code, it may be classified under broader categories related to congenital malformations or intellectual development disorders. It is crucial for individuals with suspected Schinzel Syndrome to consult with a healthcare professional for accurate diagnosis and appropriate medical management.