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Disease Profile
Isodicentric chromosome 15 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.
0
Age of onset
Neonatal
ICD-10
Q99.8
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)
Duplication/inversion 15q11; Inv dup(15); Non-distal tetrasomy 15q;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Isodicentric
Symptoms
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 | ||
Autistic behavior | 0000729 | |
Drooling |
Dribbling
|
0002307 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] |
0001382 |
30%-79% of people have these symptoms | ||
Echolalia |
Echoing another person's speech
|
0010529 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Hyperactivity |
More active than typical
|
0000752 |
0001250 | ||
Self-biting | 0012169 | |
Severe expressive language delay | 0006863 | |
Severe receptive language delay | 0011352 | |
Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ] |
0000733 |
5%-29% of people have these symptoms | ||
2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
Brachycephaly |
Short and broad skull
|
0000248 |
Short fingers or toes
|
0001156 | |
Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] |
0000455 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Decreased activity of gonads
|
0000135 | |
Low-set, posteriorly rotated ears | 0000368 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Short philtrum | 0000322 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
1%-4% of people have these symptoms | ||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Gonadal dysgenesis | 0000133 | |
Hernia | 0100790 | |
Precocious puberty |
Early onset of puberty
Early puberty
[ more ] |
0000826 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Tetralogy of Fallot | 0001636 | |
Unilateral renal agenesis |
Absent kidney on one side
Missing one kidney
Single kidney
[ more ] |
0000122 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
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The possible occurrence of double supernumerary isodicentric chromosomes derived from chromosome 15, resulting in partial hexasomy of the maternally inherited PWS/ASCR, should be considered in the differential diagnosis.
Visit the Orphanet disease page for more information.
|
Organizations
Support 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
-
Chromosome Disorder Outreach (CDO)
PO Box 724
Boca Raton, FL 33429
Telephone: +1-561-395-4252
E-mail: https://chromodisorder.org/contact/
Website: https://chromodisorder.org/ -
Dup15q Alliance
P.O. Box 1669
Highland Park, IL 60035
Telephone: 855-dup-15qa
E-mail: [email protected]
Website: https://www.dup15q.org/ -
IDIC15 Canada
Canada
Telephone: 250-320-5877 or 778-989-1210
E-mail: [email protected]
Website: https://www.idic15canada.ca/ -
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: [email protected]
Website: https://www.rarechromo.org/
Learn more
These 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
- Genetics Home Reference (GHR) contains information on Isodicentric chromosome 15 syndrome. This website is maintained by the National Library of Medicine.
- Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about Isodicentric chromosome 15 syndrome.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Isodicentric chromosome 15 syndrome. Click on the link to view a sample search on this topic.
References
- Idic(15). Unique. 2014; https://www.rarechromo.org/information/Chromosome%2015/Idic%2815%29%20FTNW.pdf.
- Rim JH, Chung HJ, Shin S, Park SJ, Choi JR. Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots. Ann Lab Med. July 2015; 35(4):474-476.
- Isodicentric chromosome 15 syndrome. Genetics Home Reference. September 2012; https://ghr.nlm.nih.gov/condition/isodicentric-chromosome-15-syndrome.