SMS is usually confirmed by blood tests called chromosome (cytogenetic) analysis and utilize a technique called FISH (fluorescent in situ hybridization). The characteristic micro-deletion was sometimes overlooked in a standard FISH test, leading to a number of people with the symptoms of SMS with negative results. The recent development of the FISH for 17p11.2 deletion test has allowed more accurate detection of this deletion. However, further testing is required for variations of<unk>  that are caused by a mutation of the RAI1 gene as opposed to a deletion. Children with SMS are often given psychiatric diagnoses such as autism, attention deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), attention deficit disorder (ADD) and/or mood disorders.
Smith–Magenis syndrome
Marshall–Smith syndrome
Wilson–Turner syndrome
Bardet–Biedl syndrome
Beckwith–Wiedemann syndrome
Smith–Lemli–Opitz syndrome
Kapur–Toriello syndrome
Smith Martin Dodd syndrome