The function of histone acetyltransferase produced from KAT6B is unknown but it is considered as a regulator of early development. There is little known about how the mutation in the KAT6B causes the syndrome but researchers suspects that the mutations occur near the end of the KAT6B gene and causes it to produce shortened acetyltransferase enzyme. The shortened enzyme alters the regulation of other genes. On the other hand, the mutation of KAT6B leading to the specific features of genitopatellar syndrome is still not surely proven. Diagnosis
Even though clinical diagnostic criteria have not been 100 percent defined for genitopatellar syndrome, the researchers stated that the certain physical features could relate to KAT6B mutation and result in the molecular genetic testing. The researchers stated that the Individuals with two major features or one major feature and two minor features are likely to have a KAT6B mutation. To diagnose the Genitopatellar Syndrome, there are multiple ways to evaluate. The primary method of diagnosing Genitopatellar Syndrome is through molecular genetic testing. Evaluation by developmental specialist
Feeding evaluation
Baseline hearing evaluation
Thyroid function tests
Evaluation of males for cryptorchidism
Orthopedic evaluation if contractures are present or feet/ankles are malpositioned
Hip X-rays to evaluate for femoral head dislocation
Kidney ultrasound examination for hydronephrosis and cysts
Echocardiogram for congenital heart defects
Evaluation for laryngomalacia if respiratory issues are present
Evaluation by gastroenterologist as needed, particularly if bowel malrotation is suspected

Treatment
There is no cure for genitopatellar syndrome. However, there are treatments for the different symptoms.
Chromosomes 17 and 1 seem to be the most common chromosomes with mutations. The disease can be inherited in an autosomal dominant, autosomal recessive or X-linked manner. Diagnosis
Patients with hereditary motor and sensory neuropathies are diagnosed through a physical evaluation that looks for muscle atrophy, weakness, and sensory responses. In addition to this, electromyography and motor nerve conduction tests can help clinicians decide what type of motor and sensory neuropathy it is and how severe the disease is. Final confirmation can come through genetic testing. Classification
Charcot–Marie–Tooth disease was first described in 1886 by Jean-Martin Charcot, Pierre Marie, and independently Howard Henry Tooth. In the 1950s, further classification occurred and separated patients into two distinct groups. Group one was characterized by slow nerve conduction velocities and demyelinating neuropathy. Group two was characterized by mostly normal nerve conduction velocities and degeneration of axons. In 1968, HMSN were classified again into seven groups:

Treatment
There is currently no known pharmacological treatment to hereditary motor and sensory neuropathy. However, the majority of people with these diseases are able to walk and be self-sufficient. Some methods of relief for the disease include physical therapy, stretching, braces, and sometimes orthopedic surgery. Since foot disorders are common with neuropathy, precautions must be taken to strengthen these muscles and use preventative care and physical therapy to prevent injury and deformities.