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Disease Profile

Recombinant chromosome 8 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

Infancy

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ICD-10

Q99.8

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)

Rec8 syndrome; San Luis Valley recombinant chromosome 8 syndrome; San Luis Valley syndrome

Categories

Chromosome Disorders; Congenital and Genetic Diseases

Summary

Recombinant chromosome 8 syndrome is a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. Many children with recombinant chromosome 8 syndrome do not survive past early childhood, usually due to complications related to their heart abnormalities. Most people with this condition are descended from a Hispanic population originating in the San Luis Valley area of southern Colorado and northern New Mexico. Recombinant chromosome 8 syndrome is caused by a rearrangement of chromosome 8 that results in a missing piece of the short (p) arm and an extra piece of the long (q) arm. Most affected individuals have at least one parent with a change in chromosome 8 called an inversion.[1]

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
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

0000164
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Deep plantar creases
Deep wrinkles in soles of feet
0001869
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth

[ more ]

0002714
Global developmental delay
0001263
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Large face
Big face
0100729
Low posterior hairline
Low hairline at back of neck
0002162
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Redundant skin
Loose redundant skin
Redundant skin folds
Sagging, redundant skin

[ more ]

0001582
30%-79% of people have these symptoms
Abnormal oral frenulum morphology
0000190
Abnormality of the kidney
Abnormal kidney
0000077
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
Bilateral single transverse palmar creases
0007598
Camptodactyly of finger
Permanent flexion of the finger
0100490
Chronic otitis media
Chronic infections of the middle ear
0000389
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
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
Gingival overgrowth
Gum enlargement
0000212
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Patellar aplasia
Absent kneecap
0006443
Patent ductus arteriosus
0001643
Pectus excavatum
Funnel chest
0000767
Pulmonary artery stenosis
Narrowing of lung artery
0004415
Scoliosis
0002650
Scrotal hypoplasia
Smaller than typical growth of scrotum
0000046
Seizure
0001250
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Tetralogy of Fallot
0001636
Thick vermilion border
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips

[ more ]

0012471
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
5%-29% of people have these symptoms
Abnormality of the anus
0004378
Abnormality of vision
Abnormality of sight
Vision issue

[ more ]

0000504
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Brachycephaly
Short and broad skull
0000248
Broad face
Increased breadth of face
Increased width of face
Wide face

[ more ]

0000283
Camptodactyly
Permanent flexion of the finger or toe
0012385
Cerebral atrophy
Degeneration of cerebrum
0002059
Delayed CNS myelination
0002188
Double outlet right ventricle
0001719
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth

[ more ]

0001510
Hydronephrosis
0000126
Hypertonia
0001276
Infra-orbital crease
Crease in skin under the eye
Groove in skin under the eye

[ more ]

0100876
Joint contracture of the hand
0009473
Malar flattening
Zygomatic flattening
0000272
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more ]

0011800
Muscular hypotonia
Low or weak muscle tone
0001252
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Postnatal growth retardation
Growth delay as children
0008897
Postnatal microcephaly<

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    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

      • MedlinePlus Genetics contains information on Recombinant chromosome 8 syndrome. 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.
        • 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 Recombinant chromosome 8 syndrome. Click on the link to view a sample search on this topic.

          References

          1. Recombinant 8 syndrome. Genetics Home Reference. April 2009; https://ghr.nlm.nih.gov/condition/recombinant-8-syndrome. Accessed 11/1/2010.

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