Making a correct diagnosis for a genetic and rare disease is oftentimes very challenging. So the doctors and other healthcare professions rely on the person's medical history, the severity of the symptoms, physical examination and lab tests to make and confirm a diagnosis. There is a possibility of interpreting the symptoms of PWS with other conditions such as AVMs and or AVFs. This is because AVMs and AVFs also involve the characteristic overgrowth in soft tissue, bone and brain. Also PWS can be misdiagnosed with Klippel–Trenaunay<unk>  (KTS). However, KTS consists of the following: triad capillary malformation, venous malformation, and lymphatic malformation. Usually a specific set of symptoms such as capillary and arteriovenous malformations occur together and this is used to distinguish PWS from similar conditions. Arteriovenous malformations (AVMs) and arteriovenous fistulas (AVFs) are caused by RASA1 mutations as well. Therefore, if all the other tests (discussed below) fail to determine PWS, which is highly unlikely, genetic testing such as sequence analysis and gene-targeted deletion/duplication analysis can be performed to identify possible RASA1 gene mutations. PWS can be distinguished from other conditions because of its defining port-wine stains that are large, flat and pink. The port-wine stains and physical examination are enough to diagnose PWS. But additional testing is necessary to determine the extent of the PWS<unk> . The following tests may be ordered by physicians to help determine the appropriate next steps: MRI, ultrasound, CT/CAT scan, angiogram, and echocardiogram. MRI: This is a high-resolution scan that is used to identify the extent of the hypertrophy or overgrowth of the tissues. This can also be used to identify other complications that may arise a result of hypertrophy. Angiogram Ultrasound: this can be necessary to examine the vascular system and determine how much blood is actually flowing through the AVMs. CT/CAT scan: this scan is especially useful for examining the areas affected by PWS and is helpful for evaluating the bones in the overgrown limb. Angiogram: an angiogram can also be ordered to get a detailed look at the blood vessels in the affected or overgrown limb. In this test a physician injects a dye into the blood vessels that will help see how the blood vessels are malformed. Echocardiogram: depending on the intensity of the PWS<unk> , an echo could also be ordered to check the condition of the heart. PWS often requires a multidisciplinary care. Depending on the symptoms, patients are dependent on: dermatologists, plastic surgeons, general surgeons, interventional radiologists, orthopedists, hematologists, neurosurgeons, vascular surgeons and cardiologists. Since the arteriovenous and capillary malformations cannot be completely reconstructed and depending on the extent and severity of the malformations, these patients may be in the care of physicians for their entire lives. Differential diagnosis * Klippel–Trénaunay<unk>  * Proteus<unk>  * Macrodystrophia lipomatosa * Neurofibromatosis type 1
Parkes Weber syndrome
Neu–Laxova syndrome
Stratton Parker syndrome
Madras motor neuron disease
Temple–Baraitser syndrome
Dejerine–Sottas disease
De Barsy syndrome
Shapiro syndrome