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Disease Profile
Baller-Gerold 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
Neonatal
ICD-10
Q75.0
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)
BGS; Craniosynostosis-radial aplasia syndrome; Craniosynostosis with radial defects
Categories
Congenital and Genetic Diseases; Digestive Diseases; Musculoskeletal Diseases
Summary
Baller-Gerold
Symptoms
- Prematurely fused skull bones (
craniosynostosis ) - Missing fingers (oligodactyly)
- Malformed or absent thumbs
- Partial or complete absence of bones in the forearm
- Growth delay
- Patchy skin breakdown and discoloration (poikiloderma)
People with Baller-Gerold syndrome can be born with abnormally shaped heads and shallow eye sockets due to premature fusion of the skull bones. They tend to be shorter than average and may be at risk for specific types of
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 | |||
Aplasia/Hypoplasia of the radius | 0006501 | ||
Aplasia/Hypoplasia of the thumb |
Absent/small thumb
Absent/underdeveloped thumb
[ more ] |
0009601 | |
Brachyturricephaly |
High, prominent forehead
|
0000244 | |
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ] |
0001531 | |
Frontal bossing | 0002007 | ||
Hand oligodactyly |
Hand has less than 5 fingers
|
0001180 | |
Large fontanelles |
Wide fontanelles
|
0000239 | |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 | |
Decreased body height
Small stature
[ more ] |
0004322 | ||
30%-79% of people have these symptoms | |||
Abnormality of the carpal bones | 0001191 | ||
Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 | |
Anteriorly placed anus | 0001545 | ||
Aplasia/Hypoplasia of the patella |
Absent/small kneecap
Absent/underdeveloped kneecap
[ more ] |
0006498 | |
Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ] |
0006487 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 | |
Malabsorption |
Intestinal malabsorption
|
0002024 | |
Narrow mouth |
Small mouth
|
0000160 | |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 | |
5%-29% of people have these symptoms | |||
Abnormal cardiac septum morphology | 0001671 | ||
Abnormal localization of kidney |
Abnormal localisation of kidneys
|
0100542 | |
Anal atresia |
Absent anus
|
0002023 | |
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 | |
Cleft roof of mouth
|
0000175 | ||
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 | |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 | |
Hydronephrosis | 0000126 | ||
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 | |
Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ] |
0000601 | |
Lymphoma |
Cancer of lymphatic system
|
0002665 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | ||
Narrow face |
Decreased breadth of face
Decreased width of face
[ more ] |
0000275 | |
Narrow nasal bridge |
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin
[ more ] |
0000446 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | ||
Osteosarcoma |
Bone cell cancer
|
0002669 | |
Poikiloderma | 0001029 | ||
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 | |
0002650 | |||
Urogenital fistula | 0100589 | ||
Vesicoureteral reflux | 0000076 | ||
Percent of people who have these symptoms is not available through HPO | |||
Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] |
0001627 | |
Abnormal vertebral morphology | 0003468 | ||
Abnormality of cardiovascular system morphology | 0030680 | ||
Abnormality of the kidney |
Abnormal kidney
|
0000077 | |
Absent radius |
Missing outer large bone of forearm
|
0003974 | |
Agenesis of |
0001274 | ||
Anomalous splenoportal venous system | 0005201 | ||
Aphalangy of the hands | 0005886 | ||
Aplasia of metacarpal bones |
Absent long bone of hand
|
0010048 | |
0000007 | |||
Bicoronal synostosis | 0011318 | ||
Bifid uvula | 0000193 | ||
Carpal bone aplasia | 0004231 | ||
Carpal synostosis | 0009702 | ||
Choanal stenosis |
Narrowing of the rear opening of the nasal cavity
|
0000452 | |
Coronal craniosynostosis | 0004440 | ||
Downslanted palpebral fissures |
DiagnosisTesting Resources
Treatment Treatment for Baller-Gerold
Specialists that may be involved in the care of someone with Baller-Gerold syndrome include:[1]
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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