What is Phelan-McDermid syndrome?
Phelan-McDermid syndrome (PMS) is a rare genetic condition caused by a deletion or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene.
What is Phelan-McDermid syndrome ICD 10?
| Entry | H01238 Disease |
|---|---|
| Other DBs | ICD-11: LD44.NY ICD-10: Q93.5 MeSH: C536801 OMIM: 606232 |
| Reference | PMID:11431708 |
| Authors | Bonaglia MC, Giorda R, Borgatti R, Felisari G, Gagliardi C, Selicorni A, Zuffardi O |
| Title | Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. |
How many people in the world have Phelan McDermid?
They often do not develop functional language and can have autism spectrum disorders. There is a wide range of severity of symptoms observed in people with PMS. There are almost 300 families who are diagnosed with PMS in the UK & Ireland, and almost 3000 registered worldwide.
What is Sanfilippo Syndrome?
Mucopolysaccaridosis type III (MPS III) is a rare genetic condition that causes fatal brain damage. It is also known as Sanfilippo syndrome and is a type of childhood dementia. MPS III is caused by a lack of an enzyme that normally breaks down and recycles a large, complex sugar molecule called ‘heparan sulphate’.
What is Burnside Butler syndrome?
2 BP1–BP2 microdeletion (Burnside–Butler) syndrome involves only four genes in the region and can present with cognitive impairment, language and/or motor delay, autism, behavioral problems, poor coordination, ataxia, and congenital anomalies but not with AS or PWS.
How many people in the world have Phelan-McDermid?
Is there a cure for Phelan McDermid Syndrome?
There is no one treatment specifically for Phelan-McDermid syndrome. Treatment is centered on treating the symptoms and careful screening for any associated disorders. Clinical trials are underway looking for new treatments for this disorder.