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Disease Profile

Distal 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)

Distal 18q deletion syndrome; Distal 18q-; Monosomy 18q syndrome;

Categories

Chromosome Disorders

Summary

Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) 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 distal chromosome 18q deletion syndrome include developmental delay, intellectual disability, behavioral problems and distinctive facial features.[1][2] 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 an affected 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 distal 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 on 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
Percent of people who have these symptoms is not available through HPO
Abnormality of the cerebral white matter
0002500
Absence of the pulmonary valve
0005134
Aortic valve stenosis
Narrowing of aortic valve
0001650
Ascending tubular aorta aneurysm
Bulging of wall of large artery located above heart
0004970
Asthma
0002099
Atopic dermatitis
0001047
Atresia of the external auditory canal
Absent ear canal
0000413
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

0001631
Autosomal dominant inheritance
0000006
Bifid uvula
0000193
Blepharophimosis
Narrow opening between the eyelids
0000581
Broad-based gait
Wide based walk
0002136
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum

[ more ]

0001321
Choanal stenosis
Narrowing of the rear opening of the nasal cavity
0000452
Chorea
0002072
Cleft upper lip
Harelip
0000204
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Delayed CNS myelination
0002188
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
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth

[ more ]

0002714
Dysplastic aortic valve
0005176
Dysplastic pulmonary valve
0005164
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy

[ more ]

0001531
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Growth hormone deficiency
0000824
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypospadias
0000047
Inguinal hernia
0000023
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness

[ more ]

0001388
Low anterior hairline
Low frontal hairline
Low-set frontal hairline

[ more ]

0000294
Macrotia
Large ears
0000400
Malar flattening
Zygomatic flattening
0000272
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
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Micropenis
Short penis
Small penis

[ more ]

0000054
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more ]

0011800
Motor delay
0001270
Muscular hypotonia
Low or weak muscle tone
0001252
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Optic atrophy
0000648
Overlapping toe
Overlapping toes
Overriding toes

[ more ]

0001845
Patent ductus arteriosus
0001643
Pes cavus
High-arched foot
0001761
Pes planus
Flat feet
Flat foot

[ more ]

0001763
Poor coordination
0002370
Prominent nose
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose

[ more ]

0000448
Proximal placement of thumb
Attachment of thumb close to wrist
0009623
Recurrent respiratory infections
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections

[ more ]

0002205
Rocker bottom foot
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet

[ more ]

0001838
Rod-cone dystrophy
0000510
Scoliosis
0002650

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

  • 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 distal 18q deletion syndrome.
  • Genetics Home Reference (GHR) contains information on Distal chromosome 18q deletion syndrome. This website is maintained by the National Library of Medicine.

    In-Depth Information

    • The Chromosome 18 Clinical Research Center provides clinical management guidelines for people with different disorders involving chromosome 18, including Distal 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. 
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Distal chromosome 18q deletion syndrome. Click on the link to view a sample search on this topic.

      References

      1. Distal 18q-. The Chromosome 18 Registry and Research Society. https://www.chromosome18.org/18q/distal-18q/. Accessed 2/17/2016.
      2. 18q deletions: from 18q21 and beyond. Unqiue. 2015; https://www.rarechromo.org/information/Chromosome%2018/18q%20deletions%20from%2018q21%20and%20beyond%20FTNW.pdf.

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