Phelan-Mcdermid Syndrome (PHMDS)

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Disease Ontology 12 DOID:0080354 OMIM 56 606232 KEGG 36 H01238 MeSH 43 D002872 ICD10 via Orphanet 33 Q93.5

UMLS via Orphanet 72 C1853490 Orphanet 58 ORPHA48652 MedGen 41 C1853490 C2931332 SNOMED-CT via HPO 68 103276001 110343009 11934000 12351004 123982003 128045006 128602000 128613002 128936008 15188001 162294008 16331000 16932000 17155009 191983006 197811007 204949001 205145001 205294008 22066006 224958001 22631008 228156007 229721007 234097001 234532001 235595009 246545002 246923005 247578003 248004009 248328003 249321001 249729002 249752003 253549006 263681008 271611007 27272007 275478007 275480001 29164008 30213001 30288003 311897005 313307000 33595009 343087000 38101003 385627004 394616008 396347007 398151007 398152000 405946002 408856003 408857007 412786000 413924001 414915002 414916001 422775003 424583005 43064006 43614003 44548000 45004005 47944004 5102002 61152003 61372001 62415009 68574006 69056000 69215007 698065002 699222000 699439001 707598004 710234009 72239002 78164000 80093006 82525005 83330001 84757009 89091004 90207007 91138005 91175000 95828007 more UMLS 71 C0008628 C1853490 C4048800

NIH Rare Diseases : ⁵² 22q13.3 deletion syndrome , also known as Phelan-McDermid syndrome, is a chromosome disorder caused by the loss (deletion ) of a small piece of chromosome 22 . The deletion occurs near the end of the long arm (or q arm) of the chromosome at a location designated as q13.3. Not everyone with 22q13.3 deletion syndrome will have the same medical, developmental, or behavioral problems (features). Common problems include low muscle tone (hypotonia ), intellectual disability , developmental delays especially delayed or absent speech , and tendency to overheat. Children may be tall and thin. Differences in other physical features are usually mild and may include long eyelashes, down slanting eyes, large ears, ears without normal folding, bulb-like tip of nose, pointed chin, large hands, and toenails that flake off as infants and then become hard and brittle as age. Additional medical problems may include gastrointestinal problems such as chronic diarrhea , constipation , or gastroesophageal reflux , seizures , delayed fine motor skills , changes in the way the brain developed, kidney problems especially vesicoureteral reflux (VUR) , vision problems such as strabismus, swelling of arms or legs (lymphedema ) during teen years, and recurrent infections, especially ear infections . Unusual behaviors may include mouthing or chewing on non-food items, decreased perception of pain, and autistic -like behaviors such as flapping of hands and repetitive motions. Most reported cases of 22q13.3 deletion syndrome are caused by 22q13.3 deletions, which usually includes many genes . The loss or the variation (mutation ) of a particular gene on chromosome 22, called the SHANK3 gene, is likely responsible for many of the common features associated with 22q13.3 deletion syndrome, especially intellectual disability, speech problems, low muscle tone, and developmental delay . Additional genes within the deleted area probably contribute to other features of the syndrome. In most cases, a larger deletion increases the number and severity of associated features, especially the severity of low muscle tone, developmental delay, differences in physical features, speech, and autism -like behavior. Smaller deletions located closer to the tip of the 22q seem to be associated with fewer medical, developmental, and behavioral problems.

MalaCards based summary : Phelan-Mcdermid Syndrome, also known as 22q13.3 deletion syndrome, is related to y chromosome infertility and partial deletion of y, and has symptoms including seizures and reflex, abnormal. An important gene associated with Phelan-Mcdermid Syndrome is SHANK3 (SH3 And Multiple Ankyrin Repeat Domains 3), and among its related pathways/superpathways are Glutamatergic synapse and Transmission across Chemical Synapses. The drugs Zinc and Mecasermin have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and brain, and related phenotypes are macrotia and delayed speech and language development

Disease Ontology : ¹² A chromosome deletion syndrome that is has material basis in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.

Genetics Home Reference : ²⁵ 22q13.3 deletion syndrome, which is also known as Phelan-McDermid syndrome, is a disorder caused by the loss of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.3. The features of 22q13.3 deletion syndrome vary widely and involve many parts of the body. Characteristic signs and symptoms include developmental delay, moderate to profound intellectual disability, decreased muscle tone (hypotonia), and absent or delayed speech. Some people with this condition have autism or autistic-like behavior that affects communication and social interaction, such as poor eye contact, sensitivity to touch, and aggressive behaviors. They may also chew on non-food items such as clothing. Less frequently, people with this condition have seizures or lose skills they had already acquired (developmental regression). Individuals with 22q13.3 deletion syndrome tend to have a decreased sensitivity to pain. Many also have a reduced ability to sweat, which can lead to a greater risk of overheating and dehydration. Some people with this condition have episodes of frequent vomiting and nausea (cyclic vomiting) and backflow of stomach acids into the esophagus (gastroesophageal reflux). People with 22q13.3 deletion syndrome typically have distinctive facial features, including a long, narrow head; prominent ears; a pointed chin; droopy eyelids (ptosis); and deep-set eyes. Other physical features seen with this condition include large and fleshy hands and/or feet, a fusion of the second and third toes (syndactyly), and small or abnormal toenails. Some affected individuals have rapid (accelerated) growth.

OMIM : ⁵⁶ Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see 209850), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007). (606232)

KEGG : ³⁶ Phelan-McDermid syndrome is a genetic disorder caused by a microdeletion on chromosome 22. It is characterized by severe expressive-language delay, mild mental retardation, hypotonia, joint laxity, dolichocephaly, and minor facial dysmorphisms. It has been indicated that this syndrome may also be caused by mutations in the SHANK3/PROSAP2 gene.

UniProtKB/Swiss-Prot : ⁷³ Phelan-McDermid syndrome: A developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior, and minor dysmorphic features.

Wikipedia : ⁷⁴ 22q13 deletion syndrome, also known as Phelan-McDermid syndrome (PMS), is a genetic disorder caused by... more...

GeneReviews: NBK1198

Clinical features from OMIM:

606232

Search NIH Clinical Center for Phelan-Mcdermid Syndrome

Search GEO for disease gene expression data for Phelan-Mcdermid Syndrome.