48,xxxy Syndrome

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ICD10 via Orphanet 33 Q98.1 UMLS via Orphanet 72 C0265498 Orphanet 58 ORPHA96263

SNOMED-CT via HPO 68 109504005 111266001 111293003 125617002 128602000 128613002 13649004 14760008 15253005 15296000 157265008 162294008 16331000 191526005 194021007 195967001 203534009 204878001 204912007 204949001 21186006 22006008 22066006 224958001 225595004 22810007 229721007 235595009 246545002 246799009 248328003 249808002 26079004 276411001 29164008 299236004 313307000 33313004 34911001 35580009 396232000 397932003 398151007 398152000 406506008 408856003 408857007 414915002 414916001 417558002 425558002 43614003 44054006 4754008 48130008 48188009 48694002 51744007 53226007 5639000 58214004 59282003 62305002 62415009 63567004 64217002 698065002 7461003 80967001 84757009 8619003 86765009 87979003 91175000 95427009 991000119106 more UMLS 71 C0265498

Genetics Home Reference : ²⁵ 48,XXXY syndrome is a chromosomal condition in boys and men that causes intellectual disability, developmental delays, physical differences, and an inability to father biological children (infertility). Its signs and symptoms vary among affected individuals. Most boys and men with 48,XXXY syndrome have mild intellectual disability with learning difficulties. Speech and language development is particularly affected. Most affected boys and men can understand what other people say more easily than they themselves can speak. The problems with speech and communication can contribute to behavioral issues, including irritability and outbursts or temper tantrums. Boys and men with 48,XXXY syndrome tend to have anxiety, a short attention span, and impaired social skills. 48,XXXY syndrome is also associated with weak muscle tone (hypotonia) and problems with coordination that delay the development of motor skills, such as sitting, standing, and walking. Affected boys and men tend to be taller than their peers, with an average adult height of over 6 feet. Other physical differences associated with 48,XXXY syndrome include abnormal fusion of certain bones in the forearm (radioulnar synostosis), an unusually large range of joint movement (hyperextensibility), elbow abnormalities, curved pinky fingers (fifth finger clinodactyly), and flat feet (pes planus). Affected individuals may have distinctive facial features, including widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point upward (upslanting palpebral fissures), and skin folds covering the inner corner of the eyes (epicanthal folds). However, some boys and men with 48,XXXY syndrome do not have these differences in their facial features. 48,XXXY syndrome disrupts male sexual development. The penis is shorter than usual, and the testes may be undescended, which means they are abnormally located inside the pelvis or abdomen. The testes are small and do not produce enough testosterone, which is the hormone that directs male sexual development. The shortage of testosterone often leads to incomplete puberty. Starting in adolescence, affected boys and men may have sparse body hair, and some experience breast enlargement (gynecomastia). Their testes typically do not produce sperm, so most men with this condition are infertile.

MalaCards based summary : 48,xxxy Syndrome, also known as xxxy syndrome, is related to hypogonadotropic hypogonadism and 47, xxy. Affiliated tissues include eye, bone and breast, and related phenotypes are global developmental delay and intellectual disability, mild

NIH Rare Diseases : ⁵² 48,XXXY syndrome is a type of chromosome abnormality characterized by the presence of 2 extra X chromosomes in males. It is sometimes referred to as a variant of Klinefelter syndrome , but differs from Klinefelter syndrome in many ways and is more severe. Signs and symptoms of 48,XXXY syndrome can vary but may include learning difficulties; intellectual disability ; low muscle tone (hypotonia ); hypogonadism ; delayed growth; distinctive facial features; and a variety of birth defects that may affect the genital and musculoskeletal systems. Many also have poorly developed social skills and delayed language development. This condition is not inherited and likely results from a random error in cell division. Treatment depends on the features in each individual and often involves the coordinated efforts of a multidisciplinary team of specialists.

Wikipedia : ⁷⁴ XXXY syndrome is a genetic condition characterized by a sex chromosome aneuploidy, where males have two... more...

Search Clinical Trials , NIH Clinical Center for 48,xxxy Syndrome

Search GEO for disease gene expression data for 48,xxxy Syndrome.