Hypersomnia was present since the age of 2 years. [jmg.bmj.com]

These patients may also present with hypotonia, global developmental delay, attention deficit hyperactivity disorder (ADHD), ataxia, and seizures. [medilib.ir]

Individuals with PMS may also present with gastrointestinal, renal and cardiac problems. [rarediseases.org]

Here, we present 2 siblings with a rare 22q13qter duplication and only mild symptoms, detected by array CGH and FISH, whose mother is a carrier of a pericentric inversion of chromosome 22. [karger.com]

This mutation is acquired during a person's lifetime and is present only in certain cells. This type of genetic change, called a somatic mutation, is not inherited. [medlineplus.gov]

• Bulbous Nose

  The nasal bridge was high, and the nose was prominent, with posteriorly low-inserted columella and a bulbous tip. She had a long philtrum and thin upper lip with downturned corners of the mouth (Fig. 1A). [karger.com]

  nose and pointed chin. [rarediseases.org]

• No Speech Development

  Speech development is significantly impaired, with delays, absent speech, delayed echolalia, and verbal apraxia. Autistic spectrum disorders are seen. [medilib.ir]

Therefore, a mitochondrial workup should be considered in individuals with copy number changes within the 22q13 region, such as those with Phelan-McDermid syndrome. [pubmed.ncbi.nlm.nih.gov]

What are the treatment options 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. [childrenshospital.org]

Individuals with PMS may have some or a subset of the symptoms for which these treatments are indicated, and treatment is highly specialized. [rarediseases.org]

Treatment is individually tailored and aims to straighten the foot so that it can grow and develop normally. Hands Many children have hands that are unusual in some way. [checkorphan.org]

Management and Treatment Is there a cure for Phelan-McDermid syndrome? There’s no cure for Phelan-McDermid syndrome. Treatment aims to address your child’s symptoms, maximize their ability to function well and prevent any complications. [my.clevelandclinic.org]

Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment. Niyazov DM, Kahler SG, Frye RE. Niyazov DM, et al. Mol Syndromol. 2016 Jul;7(3):122-37. doi: 10.1159/000446586. [pubmed.ncbi.nlm.nih.gov]

Outlook / Prognosis What is the outlook for my child if they have Phelan-McDermid syndrome? Each person may have a different outlook, depending on the types of disabilities present and how severe they are. [my.clevelandclinic.org]

The father has mild learning difficulties but his 4-year-old son has a moderate learning disability together with hyperactivity Prognosis The possibility of having another pregnancy with a 22q12/13 duplication depends on the parents’ chromosomes. [checkorphan.org]

Prevention How can I prevent 22q13.3 deletion syndrome? There’s no way to repair the genetic changes that lead to Phelan-McDermid syndrome once someone is diagnosed. [my.clevelandclinic.org]

[…] you could have done would have prevented it from occurring in your baby. [checkorphan.org]

As these individuals are expected to have a reasonably normal life expectancy [Phelan, personal communication], they should receive the recommended health maintenance preventive services (PAP smears, colon cancer screening, prostate exam, cholesterol [hindawi.com]

The protein produced from the BCR-ABL1 gene signals cancer cells to continue dividing abnormally and prevents them from self-destructing, which leads to overproduction of the abnormal cells and a shortage of normal blood cells. [medlineplus.gov]

Management of patients with gastrointestinal issues such as vomiting or diarrhea should prioritize the prevention of dehydration. [rarediseases.org]