Rare Pulmonology News

Disease Profile

Proximal chromosome 18q 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

#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

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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)

Proximal 18q deletion syndrome; Proximal 18q-; Monosomy 18q syndrome;

Categories

Chromosome Disorders; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases;

Summary

Proximal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with proximal chromosome 18q deletion syndrome include developmental delayintellectual disability, and distinctive facial features. The might also have seizures, low muscle tone (hypotonia), speech and language delays, obesity, and short stature.[1][2][3] Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having a child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person.

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 developmental delay
0001263
Intellectual disability, mild
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 hypotonia
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 hormone deficiency
0008240
Short stature
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
Hydrocephalus
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
Microcephaly
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
Seizure
0001250
Sensorineural hearing impairment
0000407
Short philtrum

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

    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 Proximal chromosome 18q deletion syndrome. This website is maintained by the National Library of Medicine.
    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
    • The Chromosome 18 Registry & Research Society is an advocacy organization composed of parents of individuals with chromosome 18 abnormalities. Click on the link above to view their information page on proximal 18q deletion syndrome.

      In-Depth Information

      • The Chromosome 18 Clinical Research Center provides clinical management guidelines for people with different disorders involving chromosome 18, including Proximal chromosome 18q deletion syndrome.
      • 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 Proximal chromosome 18q deletion syndrome. Click on the link to view a sample search on this topic.

        References

        1. 18q deletion syndrome. Genetics Home Reference (GHR). June 2014; https://ghr.nlm.nih.gov/condition/18q-deletion-syndrome.
        2. Proximal 18q-. The Chromosome 18 Registry and Research Society. December 9, 2015; https://www.chromosome18.org/18q/proximal-18q/.
        3. Fryns JP, Hulten M. 18q deletions from 18q11.2 to 18q21.2. Unique. February 2, 2014; https://www.rarechromo.org/information/Chromosome%2018/18q%20deletions%20from%20%2018q11.2%20to%2018q21.2%20FTNP.pdf.

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