MCID: 48X002
MIFTS: 25

48,xxxy Syndrome

Categories: Endocrine diseases, Fetal diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for 48,xxxy Syndrome

MalaCards integrated aliases for 48,xxxy Syndrome:

Name: 48,xxxy Syndrome 52 25 58
Xxxy Syndrome 52 25 71
Xxxy Males 25

Characteristics:

Orphanet epidemiological data:

58
48,xxxy syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare infertility disorders
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for 48,xxxy Syndrome

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...

Related Diseases for 48,xxxy Syndrome

Diseases related to 48,xxxy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 3, show less)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 11.3
2 47, xxy 11.3
3 48,xyyy 10.1

Symptoms & Phenotypes for 48,xxxy Syndrome

Human phenotypes related to 48,xxxy Syndrome:

58 31 (showing 63, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
3 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
4 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
5 azoospermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000027
6 infertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000789
7 language impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002463
8 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
9 abnormality of epiphysis morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005930
10 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
11 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
12 chronic otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000389
13 open bite 58 31 frequent (33%) Frequent (79-30%) HP:0010807
14 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
15 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
16 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
17 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
18 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
19 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
20 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
21 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
22 autism 58 31 frequent (33%) Frequent (79-30%) HP:0000717
23 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
24 depressed nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000457
25 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
26 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
27 abnormality of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000682
28 asthma 58 31 frequent (33%) Frequent (79-30%) HP:0002099
29 elbow dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0003042
30 taurodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000679
31 scrotal hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000046
32 radioulnar synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0002974
33 hypoplasia of penis 58 31 frequent (33%) Frequent (79-30%) HP:0008736
34 down-sloping shoulders 58 31 frequent (33%) Frequent (79-30%) HP:0200021
35 gynecomastia 58 31 frequent (33%) Frequent (79-30%) HP:0000771
36 tall stature 58 31 frequent (33%) Frequent (79-30%) HP:0000098
37 short neck 58 31 occasional (7.5%) Occasional (29-5%) HP:0000470
38 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
39 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
40 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
41 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
42 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
43 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
44 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
45 delayed speech and language development 58 31 occasional (7.5%) Occasional (29-5%) HP:0000750
46 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
47 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
48 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
49 pulmonary embolism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002204
50 irritability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000737
51 coxa valga 58 31 occasional (7.5%) Occasional (29-5%) HP:0002673
52 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
53 venous thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004936
54 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
55 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
56 facial asymmetry 58 31 occasional (7.5%) Occasional (29-5%) HP:0000324
57 schizophrenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100753
58 blepharophimosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000581
59 abnormal social behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0012433
60 renal dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000110
61 abnormal aggressive, impulsive or violent behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0006919
62 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
63 malformation of the heart and great vessels 58 Occasional (29-5%)

Drugs & Therapeutics for 48,xxxy Syndrome

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

Genetic Tests for 48,xxxy Syndrome

Anatomical Context for 48,xxxy Syndrome

MalaCards organs/tissues related to 48,xxxy Syndrome:

40
Eye, Bone, Breast, Skin, Testes, Heart

Publications for 48,xxxy Syndrome

Articles related to 48,xxxy Syndrome:

(showing 3, show less)
# Title Authors PMID Year
1
[XXXY syndrome. A case and review of the literature]. 61
4149962 1973
2
Cytogenetic analysis of a boy with the XXXY syndrome: origin of the X-chromosomes. 61
5438170 1970
3
[The XXXY-syndrome. Two new observations in young children and a literary review]. 61
4391865 1969

Variations for 48,xxxy Syndrome

Expression for 48,xxxy Syndrome

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

Pathways for 48,xxxy Syndrome

GO Terms for 48,xxxy Syndrome

Sources for 48,xxxy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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