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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.

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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.
orphanet

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.

Clinical description
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).

Etiology
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.

Genetic counseling
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 imaging abnormality
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 neoplasm
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 hormone level
0003165
Focal-onset seizure
Seizure affecting one half of brain
0007359
Glaucoma
0000501
Global developmental delay
0001263
Hypermelanotic macule
Hyperpigmented spots
0001034
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Intellectual disability
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
Osteoporosis
0000939
Pain
0012531
Polyneuropathy
Peripheral nerve disease
0001271
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

0000520
Pulmonary arterial hypertension
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 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.

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.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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 Chromosome 17q11.2 deletion syndrome. Click on the link to view a sample search on this topic.

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