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

Phelan-McDermid syndrome is a congenital condition (condition that is present at birth) that can affect people of all genders. What Causes PMS? PMS is caused by a mutation (change) or deletion of theSHANK3 gene (piece of genetic material). [massgeneral.org]

Patients should also present the main features commonly seen in PMS (see above). As mentioned before, at least 12 patients were reported in the literature with PMS-SHANK3 unrelated (10 are present in the PMSF International Registry). [ojrd.biomedcentral.com]

This rare disease also presents with global developmental delay, intellectual disability, low muscle tone, and distinct facial features. * This composite image of Phelan-Mcdermid syndrome was created to help geneticists get a better analysis What gene [fdna.health]

Each person may have a different outlook, depending on the types of disabilities present and how severe they are. The effects of the condition are rarely life-threatening. [my.clevelandclinic.org]

• Epilepsy

  […] has a deep knowledge of Phelan-McDermid syndrome and can provide specialty care for the many symptoms related to the condition, including autism, developmental delay, attention deficit hyperactivity disorder and other behavioral challenges, insomnia, epilepsy [childrenshospital.org]

  Other health conditions include heart and kidney defects and epilepsy. [fdna.health]

  Scientists can say, “I want people with epilepsy,” or “I want people with lymphedema,” and the foundation can help identify and steer those people to that researcher. That’s a good initiative for rare-disease groups to undertake. [spectrumnews.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]

• Dolichocephaly

  It is characterized by severe expressive-language delay, mild mental retardation, hypotonia, joint laxity, dolichocephaly, and minor facial dysmorphisms. [genome.jp]

  The facial features associated with PMS include long head shape (dolichocephaly), large/prominent ears, full brow, deep-set eyes, long eyelashes, full or puffy eyelids, droopy eyelids (ptosis), flat midface, full or puffy cheeks, wide nasal bridge, bulbous [rarediseases.org]

• Macrocephaly

  Macrocephaly in PMS has also been associated with increased deletion size (median deletion size 6.99 Mb), with macrocephaly more likely associated with the larger interstitial deletions than the smaller deletions clustered around SHANK3 [26]. [ojrd.biomedcentral.com]

• Global Developmental Delay

  This rare disease also presents with global developmental delay, intellectual disability, low muscle tone, and distinct facial features. * This composite image of Phelan-Mcdermid syndrome was created to help geneticists get a better analysis What gene [fdna.health]

  In addition to normal growth and a constellation of minor dysmorphic features, this syndrome is characterized by neurological deficits which include global developmental delay, moderate to severe intellectual impairment, absent or severely delayed speech [pubmed.ncbi.nlm.nih.gov]

• Language Delays

  It is characterized by severe expressive-language delay, mild mental retardation, hypotonia, joint laxity, dolichocephaly, and minor facial dysmorphisms. [genome.jp]

  E. (2007). 22q13. 3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 45(4), 393-398. Dhar, S. [revista.infad.eu]

  Citation on PubMed or Free article on PubMed Central Cusmano-Ozog K, Manning MA, Hoyme HE. 22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delay. [medlineplus.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]

Follow-up visits will occur at week 2, week 4, week 8, and week 12 in each treatment phase (IGF-1 or placebo), and then again 4 weeks after study completion, Parents/guardians will be asked to administer the IGF-1/ placebo by injection at home and will [clinicaltrials.gov]

The molecular connection to ASD suggests that potential future treatments may involve modulation of metabotropic glutamate receptors. [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]

Bourgeron12 Orphanet Journal of Rare Diseases volume 17, Article number: 27 (2022) Cite this article 1837 Accesses 7 Citations 11 Altmetric Metrics details Abstract Phelan-McDermid syndrome (PMS) was initially called the 22q13 deletion syndrome based on its etiology [ojrd.biomedcentral.com]

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]

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