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Disease Profile

Chromosome 8p23.1 deletion

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

Infancy

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ICD-10

Q93.5

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)

8p23.1 microdeletion syndrome; Deletion 8p23.1; Monosomy 8p23.1;

Categories

Chromosome Disorders; Congenital and Genetic Diseases; Kidney and Urinary Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 251071

Definition
8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.

Epidemiology
The prevalence is unknown but 8p23.1 deletions are rare. To date, over 50 cases of interstitial or terminal 8p23.1 have been reported without a notable gender discrepancy.

Clinical description
The clinical manifestations are variable and do not depend on the size of the deletion, since this is the same in the majority of patients. Most common manifestations include prenatal and postnatal growth retardation, low birth weight, mild to moderate intellectual deficit, psychomotor retardation, poor speech, seizures, behavioral problems such as hyperactivity and impulsiveness. Frequent craniofacial abnormalities include microcephaly, high and narrow forehead, broad nasal bridge, epicanthic folds, high arched palate, short neck and low set unusually shaped ears. Furthermore congenital heart defects (atrioventricular, septal defects, pulmonary stenosis), congenital diaphragmatic hernia and in boys cryptorchidism and hypospadias have been frequently reported. Some affected individuals have been reported to have normal intelligence.

Etiology
The 8p23.1 deletion is likely to arise through non-allelic homologous recombination mediated by flanking low-copy repeats (LCRs), explaing the common size of approximately 3.4 Mb. The congenital heart defects and diaphragmatic hernia are most likely explained by haploinsufficiency for GATA4.

Diagnostic methods
Diagnosis is based on clinical manifestations leading to chromosomal analysis. 8p23.1 deletions are often missed by standard karyotyping, and mostly detected by molecular karyotyping. Molecular techniques may be used for the genetic characterization of the deletion (FISH, MLPA, aCGH).

Differential diagnosis
Differential diagnosis includes monosomy 22q11 (velocardiofacial syndrome; see this term). Accurate chromosomal analysis confirms the differential diagnosis.

Antenatal diagnosis
Prenatal diagnosis is possible by amniocentesis or chorionic villus sampling and molecular cytogenetic analysis.

Genetic counseling
Genetic counseling is recommended. Most 8p23.1 deletions occur de novo. However, parents can carry and transmit the chromosomal rearrangement to their children as well, with a risk of 50% for each child.

Management and treatment
Management involves assessment, treatment and a regular follow-up by appropriate specialists, including a general practitioner, pediatrician and cardiologists. Early diagnosis and access to major developmental therapies aiming at obtaining the best developmental outcome have been proven beneficial.

Prognosis
Life expectancy is considered normal provided that there is no major congenital heart anomaly or a diaphragmatic hernia.

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
Global developmental delay
0001263
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation

[ more ]

0001256
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
30%-79% of people have these symptoms
Atrioventricular canal defect
0006695
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder

[ more ]

0007018
Biparietal narrowing
0004422
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Enlarged thorax
Wide rib cage
0100625
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
External ear malformation
0008572
High forehead
0000348
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hypospadias
0000047
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Poor speech
0002465
Pulmonary artery stenosis
Narrowing of lung artery
0004415
Seizure
0001250
Short neck
Decreased length of neck
0000470
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Short stature
Decreased body height
Small stature

[ more ]

0004322
Tapered finger
Tapered fingertips
Tapering fingers

[ more ]

0001182
Weight loss
0001824
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples

[ more ]

0006610
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431
5%-29% of people have these symptoms
Abnormal aortic morphology
0001679
Broad hallux phalanx
Broad bone of big toe
Wide bone of big toe

[ more ]

0010059
Broad thumb
Broad thumbs
Wide/broad thumb

[ more ]

0011304
Congenital diaphragmatic hernia
0000776
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye

[ more ]

0000490
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Full cheeks
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks

[ more ]

0000293
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Hypoplastic left heart
Underdeveloped left heart
0004383
Obesity
Having too much body fat
0001513
Patent ductus arteriosus
0001643
Pes planus
Flat feet
Flat foot

[ more ]

0001763
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge

[ more ]

0000426
Proximal placement of thumb
Attachment of thumb close to wrist
0009623
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Tetralogy of Fallot
0001636
Thin vermilion border
Decreased volume of lip
Thin lips

[ more ]

0000233
Transposition of the great arteries
0001669
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582

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

    Social Networking Websites

      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 Chromosome 8p23.1 deletion. This website is maintained by the National Library of Medicine.

        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.
        • 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 8p23.1 deletion. Click on the link to view a sample search on this topic.