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Disease Profile
Birk-Barel 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.
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Age of onset
Infancy
ICD-10
Q87.8
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)
Intellectual disability-hypotonia-facial dysmorphism syndrome; KCNK9 imprinting syndrome
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Birk-Barel
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
|
---|---|---|
30%-79% of people have these symptoms | ||
Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] |
0000455 |
Broad philtrum | 0000289 | |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Dysphonia |
Inability to produce voice sounds
|
0001618 |
Fatiguable weakness of proximal limb muscles | 0030200 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global |
0001263 | |
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] |
0002705 |
Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ] |
0002553 |
Hyperactivity |
More active than typical
|
0000752 |
Hypomimic face |
Dull facial expression
|
0000338 |
Incisor macrodontia |
Increased width of incisor
|
0011081 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Narrow forehead |
Decreased width of the forehead
|
0000341 |
Narrow nasal bridge |
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin
[ more ] |
0000446 |
Nasogastric tube feeding | 0040288 | |
Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] |
0000194 |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
Sacral dimple |
Spinal dimple
|
0000960 |
Short philtrum | 0000322 | |
Tented upper lip vermilion | 0010804 | |
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ] |
0012471 |
5%-29% of people have these symptoms | ||
Areflexia |
Absent tendon reflexes
|
0001284 |
0005879 | ||
Contractures involving the joints of the feet |
Contractures of the foot joints
|
0008366 |
Limited elbow flexion/extension | 0005060 | |
Motor axonal neuropathy | 0007002 | |
Spinal muscular atrophy |
Spinal muscle degeneration
Spinal muscle wasting
[ more ] |
0007269 |
Tongue fasciculations |
Tongue twitching
Twitching of the tongue
[ more ] |
0001308 |
1%-4% of people have these symptoms | ||
Bifid uvula | 0000193 | |
Feeding difficulties in infancy | 0008872 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Long eyelashes |
Increased length of eyelashes
Unusually long eyelashes
[ more ] |
0000527 |
Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] |
0000276 |
Microretrognathia |
Small retruded chin
|
0000308 |
Reduced subcutaneous adipose |
Reduced fat tissue below the skin
|
0003758 |
Single transverse palmar crease | 0000954 | |
Submucous cleft soft palate | 0011819 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
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
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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.
Social Networking Websites
- Visit the KCNK9 Imprinting SyndromeBirk-Barel group on Facebook.
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 Birk-Barel syndrome. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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 Birk-Barel syndrome. Click on the link to view a sample search on this topic.
References
- Birk-Barel Mental Retardation Dysmorphism Syndrome. Online Mendelian Inheritance in Man (OMIM). September 19, 2008; https://omim.org/entry/612292. Accessed 10/15/2014.
- Barel O, Shalev SA, Ofir R, Cohen A, Zlotogora J, Shorer Z, Mazor G, Finer G, Khateeb S, Zilberberg N, Birk OS. Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. Am J Hum Genet. Aug 8, 2008; 83(2):193-199. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2495061/. Accessed 10/15/2014.