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Disease Profile
Chromosome 17q11.2 deletion syndrome
Prevalence
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.
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
-
ICD-10
Q85.0
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)
Chromosome 17q11.2 deletion syndrome, 1.4Mb ; VAN ASPEREN SYNDROME; Del(17)(q11);
Categories
Blood Diseases; Congenital and Genetic Diseases; Eye diseases;
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 97685
Definition
17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism, developmental delay , intellectual disability , increased risk of malignancies, and a large number of neurofibromas.
Epidemiology
The prevalence of 17q11 microdeletion syndrome is not known. About 5% of NF1 cases are reported to have deletions of the entire NF1 gene . More than 170 affected patients have been reported to date.
Affected individuals often have unusual body habitus and facial dysmorphism including facial coarsening, prominent forehead, ptosis , down-slanting palpebral fissures, hypertelorism, broad nose and nasal bridge, low set ears, and micrognathia . Patients develop a large number of neurofibromas, often with early onset, including multiple cutaneous neurofibromas, and less commonly plexiform neurofibromas. Other characteristic features include attention deficit/hyperactivity disorder (AD/HD), delayed cognitive development and intellectual disability. Some patients are reported to have microcephaly or macrocephaly, optic pathway glioma, iris coloboma (see these terms), heart defects (mitral valve prolapse, aortic dilatation), large hands and feet, connective tissue dysplasia (joint hyperflexibility, soft palm skin), muscular hypotonia , scoliosis , pectus excavatum, and bone cysts. A higher risk of malignancy for NF1 and non-NF1 tumors is reported: malignant peripheral nerve sheath tumors (lifetime risk of 16-26%), retroperitoneal fibrosarcoma, and medulloblastoma with extensive nodularity (see this term).
Germline and mosaic microdeletions of the NF1 gene and its flanking regions caused by non-allelic homologous recombination are reported in patients with this disorder. Most occur de novo .
As most cases are de novo, recurrence risk for offspring of unaffected parents is very low. Affected individuals have a 50% risk of transmitting the microdeletion, and prenatal and preimplantation genetic diagnosis is possible.
Visit the Orphanet disease page for more resources.
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 | ||
| Freckling | 0001480 | |
| Impaired social interactions |
Impaired social interaction
Poor social interactions
[ more ] |
0000735 |
| Multiple cafe-au-lait spots | 0007565 | |
| Short attention span |
Poor attention span
Problem paying attention
[ more ] |
0000736 |
| 30%-79% of people have these symptoms | ||
| Abnormal central motor function | 0011442 | |
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Beaking of vertebral bodies T12-L3 | 0004562 | |
| Brain |
0410263 | |
| Language impairment | 0002463 | |
| Lisch nodules | 0009737 | |
| Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ] |
0002354 |
| Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ] |
0002076 |
| Nevus anemicus | 0025105 | |
| Papule | 0200034 | |
| Plexiform neurofibroma | 0009732 | |
| Progressive visual loss |
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ] |
0000529 |
| Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 |
| Specific learning disability | 0001328 | |
| Telangiectasia of the skin | 0100585 | |
| Thickened skin |
Thick skin
|
0001072 |
| 5%-29% of people have these symptoms | ||
| Abnormal choroid morphology | 0000610 | |
| Abnormal internal carotid artery morphology | 3000062 | |
| Abnormal lung morphology |
Abnormality of lung structure
Abnormality of the lungs
Abnormally shaped lung
Unusal lung shape
[ more ] |
0002088 |
| Abnormality of the sphenoid sinus | 0430022 | |
| Atypical neurofibromatosis | 0007524 | |
| Blindness | 0000618 | |
| Brain |
0030692 | |
| Brainstem glioma | 0010796 | |
| Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
| Cerebellar glioma | 0010795 | |
| Cerebral artery stenosis |
Narrowing of a cerebral artery
|
0012492 |
| Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ] |
0001680 |
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ] |
0000490 |
| Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 |
| Dilatation of the cerebral artery | 0004944 | |
| Elevated circulating parathyroid |
0003165 | |
| Focal-onset |
Seizure affecting one half of brain
|
0007359 |
| 0000501 | ||
| Global |
0001263 | |
| Hypermelanotic macule |
Hyperpigmented spots
|
0001034 |
| Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
|
Mental deficiency
Mental retardation, nonspecific
Mental retardation
Mental-retardation
[ more ] |
0001249 | |
| Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
| Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
| Large hands |
large hand
|
0001176 |
| Long foot |
Disproportionately large feet
long feet
large feet
[ more ] |
0001833 |
| Multiple mucosal neuromas | 0031023 | |
| Narrowing of medullary canal | 0032458 | |
| Neurofibrosarcoma | 0100697 | |
| Optic nerve glioma | 0009734 | |
| Osteolysis |
Breakdown of bone
|
0002797 |
| Osteopenia | 0000938 | |
| 0000939 | ||
| Pain | 0012531 | |
| Polyneuropathy |
Peripheral nerve disease
|
0001271 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
| Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
| Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
| Recurrent subcortical infarcts | 0007236 | |
| Renal artery stenosis |
Narrowing of kidney artery
|
0001920 |
| Renovascular hypertension |
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. In-Depth Information
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