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Disease Profile
Proximal chromosome 18q deletion 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.
#N/A
Age of onset
#N/A
ICD-10
#N/A
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)
Proximal 18q deletion syndrome; Proximal 18q-; Monosomy 18q syndrome;
Categories
Chromosome Disorders; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases;
Summary
Proximal
This page is meant to provide general information about proximal 18q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 18. To learn more about chromosomal anomalies, please visit our GARD webpage FAQs About Chromosome Disorders.
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
|
---|---|---|
30%-79% of people have these symptoms | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Abnormal myelination | 0012447 | |
Abnormal palmar dermatoglyphics | 0001018 | |
Abnormal retinal morphology |
Retina issue
|
0000479 |
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ] |
0001166 |
Bilateral conductive hearing impairment | 0008513 | |
Bilateral cryptorchidism | 0008689 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
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 |
Diffuse white matter abnormalities | 0007204 | |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Global |
0001263 | |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
Kyphoscoliosis | 0002751 | |
Macrotia |
Large ears
|
0000400 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Neonatal |
Low muscle tone, in neonatal onset
|
0001319 |
Patent ductus arteriosus | 0001643 | |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Poor coordination | 0002370 | |
Pulmonary valve defects | 0005148 | |
Secondary growth |
0008240 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Tapered finger |
Tapered fingertips
Tapering fingers
[ more ] |
0001182 |
5%-29% of people have these symptoms | ||
Absence of the pulmonary valve | 0005134 | |
Aortic aneurysm |
Bulge in wall of large artery that carries blood away from heart
|
0004942 |
Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
Biparietal narrowing | 0004422 | |
Bulbous nose | 0000414 | |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
Choanal stenosis |
Narrowing of the rear opening of the nasal cavity
|
0000452 |
Choreoathetosis | 0001266 | |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 |
Decreased circulating IgA level | 0002720 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Dysplastic pulmonary valve | 0005164 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] |
0001382 |
Left aortic arch with right descending aorta and right ductus arteriosus | 0011596 | |
Left-to-right shunt | 0012382 | |
Low anterior hairline |
Low frontal hairline
Low-set frontal hairline
[ more ] |
0000294 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Mitral regurgitation | 0001653 | |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] |
0000194 |
Pectus excavatum |
Funnel chest
|
0000767 |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] |
0000448 |
Secundum atrial septal defect | 0001684 | |
0001250 | ||
Sensorineural hearing impairment | 0000407 | |
Short philtrum |
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
References
Rare Neurology News |