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Disease Profile
49, XXXXY syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Childhood
ICD-10
Q98.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
XXXXY syndrome; 49,XXXXY
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Kidney and Urinary Diseases;
Summary
49,XXXXY
Symptoms
There is usually severe
- skeletal abnormalities and joint laxity
congenital heart defects - other
endocrine disorders (affecting the hormones) - abnormalities in the brain (cerebral defects) such as underdevelopment of the
corpus callosum (the pathway connecting the 2 hemispheres of the brain) - renal defects such as renal hypoplasia (small kidneys)
- eye problems such as
strabismus and severe nearsightedness (myopia)
Although people with 49,XXXXY syndrome are sometimes referred to as having a variant of Klinefelter syndrome, the features of these are generally distinct and 49,XXXXY syndrome is more severe.[3]
You can read more about the features of 49,XXXXY syndrome in a fact sheet provided by Unique. The information in this fact sheet comes from both the medical literature and reports of some members of Unique who took part in a survey in 2004.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] |
0000682 |
Azoospermia |
Absent sperm in semen
|
0000027 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
Global |
0001263 | |
Hypogonadism |
Decreased activity of gonads
|
0000135 |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Infertility | 0000789 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Language impairment | 0002463 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Open bite |
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ] |
0010807 |
30%-79% of people have these symptoms | ||
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Asthma | 0002099 | |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 |
0000717 | ||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Chronic otitis media |
Chronic infections of the middle ear
|
0000389 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Constipation | 0002019 | |
Coxa valga | 0002673 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 |
Down-sloping shoulders |
Rounded shoulders
Rounded, sloping shoulders
Sloping shoulders
[ more ] |
0200021 |
Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ] |
0003042 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Enlarged male breast
|
0000771 | |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Radioulnar synostosis |
Fused forearm bones
|
0002974 |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
Renal dysplasia | 0000110 | |
0002650 | ||
Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
0001250 | ||
Strabismus |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 |
Taurodontia | 0000679 | |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
5%-29% of people have these symptoms | ||
Abnormality of cardiovascular system morphology | 0030680 | |
Arrhinencephaly | 0002139 | |
Brachycephaly |
Short and broad skull
|
0000248 |
Cleft roof of mouth
|
0000175 | |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Cause 49,XXXXY
The underlying reason for random errors in cell division is not known. However, there is nothing a person can do, or not do, before or during pregnancy to cause 49,XXXXY syndrome to occur. The specific features of 49,XXXXY syndrome are thought result from increased "doses" of Treatment There is no cure for 49,XXXXY
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
Selected Full-Text Journal Articles
References
Rare Hematology News |