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Disease Profile
Jacobsen 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
Antenatal
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.
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)
JBS; Chromosome 11q deletion syndrome; Partial 11q monosomy syndrome
Categories
Blood Diseases; Chromosome Disorders; Congenital and Genetic Diseases;
Summary
Jacobsen
Symptoms
People with Jacobsen syndrome typically have distinctive facial features, which include small and low-set ears; wide-set eyes (hypertelorism) with droopy eyelids (
Other signs and symptoms of the condition may include
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 | |||
Bone marrow hypocellularity |
Bone marrow failure
|
0005528 | |
Feeding difficulties in infancy | 0008872 | ||
Global |
0001263 | ||
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | ||
Low platelet count
|
0001873 | ||
30%-79% of people have these symptoms | |||
Abnormal form of the vertebral bodies | 0003312 | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 | |
Aplasia/Hypoplasia of the earlobes |
Absent/small ear lobes
Absent/underdeveloped ear lobes
[ more ] |
0009906 | |
Aplasia/Hypoplasia of the eyebrow |
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ] |
0100840 | |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 | |
Broad columella | 0010761 | ||
Broad hallux phalanx |
Broad bone of big toe
Wide bone of big toe
[ more ] |
0010059 | |
Constipation | 0002019 | ||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 | |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 | |
Finger |
0006101 | ||
Frontal bossing | 0002007 | ||
High forehead | 0000348 | ||
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 | |
Long hallux |
Long big toe
|
0001847 | |
Long philtrum | 0000343 | ||
Low-set, posteriorly rotated ears | 0000368 | ||
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 | |
Microcornea |
Cornea of eye less than 10mm in diameter
|
0000482 | |
Missing ribs |
Absent ribs
Decreased rib number
[ more ] |
0000921 | |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 | |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ] |
0001622 | |
Ptosis |
Drooping upper eyelid
|
0000508 | |
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 | |
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 | |
Short toe |
Short toes
Stubby toes
[ more ] |
0001831 | |
Smooth philtrum | 0000319 | ||
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | ||
Toe clinodactyly | 0001863 | ||
Toe syndactyly |
Fused toes
Webbed toes
[ more ] |
0001770 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 | |
Ventriculomegaly | 0002119 | ||
5%-29% of people have these symptoms | |||
Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] |
0000174 | |
Agenesis of |
0001274 | ||
Annular pancreas | 0001734 | ||
Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 | |
Bipolar affective disorder |
Bipolar disorder
|
0007302 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | ||
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 | |
Coarctation of aorta |
Narrowing of aorta
Narrowing of the aorta
[ more ] |
0001680 | |
Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 | |
Duodenal atresia |
Absence or narrowing of first part of small bowel
|
0002247 | |
Ectopic anus |
Cause Jacobsen
In about 85% of cases, the deletion is due to a random error during the formation of the egg or sperm, or an error in 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
Treatment There is no cure for Jacobsen
Individuals with low Eye abnormalities may be treated with surgery, glasses, contact lenses, and/or other measures to improve visual problems. Abnormalities of the joints, tendons, muscles, and bones may be treated by orthopedic techniques, potentially in combination with surgery. 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
Selected Full-Text Journal Articles
References
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