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]

• Atrial Septal Defect

  The two types of holes are: Atrial septal defects (ASDs) – holes in the muscular wall between the two filling parts of the heart. Some blood flows through from the left to the right side, increasing the amount of blood flowing to the lungs. [checkorphan.org]

  GATA4 is related to atrial septal defect 2, atrioventricular septal defect 4, tetralogy of Fallot, and ventricular septal defect 1 in an autosomal dominant manner [OMIM: 600576]. [link.springer.com]

  This duplication is occasionally associated with heart defects (atrial septal defect [ASD], tetralogy of Fallot [TOF]), submucous cleft palate anomalies, and eye anomalies (strabismus, blepharophimosis, and ptosis). [medilib.ir]

• Camping

  Patients may benefit from physical, occupational, and speech therapies. 16p13.3 DUPLICATION SYNDROME — This duplication involves the Rubinstein-Taybi critical region and includes the cyclic adenosine monophosphate [cAMP] response element-binding protein [medilib.ir]

• Nausea

  Some people with this condition have episodes of frequent vomiting and nausea (cyclic vomiting) and backflow of stomach acids into the esophagus (gastroesophageal reflux). [medlineplus.gov]

  Gastrointestinal issues like frequent nausea and vomiting or gastroesophageal reflux disease. Many people with Phelan-McDermid syndrome have autism spectrum disorder, which may cause certain behaviors. Your child may: Avoid eye contact. [my.clevelandclinic.org]

  […] anticonvulsants and benzodiazepines for those with seizures and myoclonus, anti-psychotics/electroconvulsive therapy/alpha agonists/stimulants for psychiatric and attention disorders, melatonin and other treatments for sleep disturbances and fluids and anti-nausea [rarediseases.org]

• Vomiting

  Some people with this condition have episodes of frequent vomiting and nausea (cyclic vomiting) and backflow of stomach acids into the esophagus (gastroesophageal reflux). [medlineplus.gov]

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

  Gastrointestinal issues like frequent nausea and vomiting or gastroesophageal reflux disease. Many people with Phelan-McDermid syndrome have autism spectrum disorder, which may cause certain behaviors. Your child may: Avoid eye contact. [my.clevelandclinic.org]

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]