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Disease Profile
Recombinant chromosome 8 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.
Unknown
Age of onset
Infancy
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.
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)
Rec8 syndrome; San Luis Valley recombinant chromosome 8 syndrome; San Luis Valley syndrome
Categories
Chromosome Disorders; Congenital and Genetic Diseases
Summary
Recombinant
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 |
0001263 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
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 |
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 |
0002650 | ||
Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
0001250 | ||
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 roof of mouth
|
0000175 | |
Cleft upper lip |
Harelip
|
0000204 |
Percent of people who have these symptoms is not available through HPO | ||
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 |
0002188 | |
Double outlet right ventricle | 0001719 | |
Generalized |
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 |
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 DiagnosisMaking 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
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
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
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