Rare Hematology News

Disease Profile

Baller-Gerold 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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)

BGS; Craniosynostosis-radial aplasia syndrome; Craniosynostosis with radial defects

Categories

Congenital and Genetic Diseases; Digestive Diseases; Musculoskeletal Diseases

Summary

Baller-Gerold syndrome (BGS) is a rare condition primarily affecting the way the bones of the skull and limbs grow. Features include premature fusion of specific skull bones (craniosynostosis) and underdevelopment of the bones in the arms and hands (radial ray anomalies). In addition, they may have a characteristic skin condition that includes patches of discoloration and skin breakdown (poikiloderma). People with BGS may have growth delay and be at increased risk for certain types of cancer. Intelligence is usually normal. Most cases of BGS are caused by alterations in the RECQL4 gene. It is inherited in an autosomal recessive manner. Treatment may include surgery for craniosynostosis or for reconstruction of the arm and hand. The symptoms of Baller-Gerold syndrome overlap with features of Rothmund-Thomson syndrome and RAPADILINO syndrome which are also caused by the RECQL4 gene.[1][2][3][4]

Symptoms

The following list includes the most common signs and symptoms in people with Baller-Gerold syndrome. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list also does not include every symptom or feature that has been described in this condition.

Symptoms may include:[1][4]

  • 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 cancer. Most people with BGS have normal intelligence.[1]

 

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
Short stature
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 palate
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
Micrognathia
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
Nystagmus
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
Scoliosis
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 corpus callosum
0001274
Anomalous splenoportal venous system
0005201
Aphalangy of the hands
0005886
Aplasia of metacarpal bones
Absent long bone of hand
0010048
Autosomal recessive inheritance
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

Cause

Baller-Gerold syndrome is caused by genetic alterations (mutations) in the RECQL4 gene. Genetic alterations in the TWIST or FGFR2 genes have rarely been reported as a cause of Baller-Gerold syndrome.[2][5]

Diagnosis

Baller-Gerold syndrome is diagnosed based on a clinical examination, the symptoms, and confirmed by genetic testing. BGS can be diagnosed during pregnancy using an ultrasound examination and prenatal testing.[2][4]

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.

    Treatment

    Treatment for Baller-Gerold syndrome is based on managing the symptoms. This may include surgery to fix the bones of the skull and other skeletal abnormalities. In addition, some may need surgery to reconstruct the hand.[1][5]

    Specialists that may be involved in the care of someone with Baller-Gerold syndrome include:[1]

    • Craniofacial surgeon
    • Neurosurgeon
    • Physical therapist
    • Occupational therapist
    • Dermatologist

    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

      • Genetics Home Reference (GHR) contains information on Baller-Gerold syndrome. This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        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 Baller-Gerold syndrome. Click on the link to view a sample search on this topic.

          References

          1. Van Maldergem L. Baller-Gerold Syndrome. GeneReviews. Updated Apr. 19, 2018; https://www.ncbi.nlm.nih.gov/books/NBK1204/.
          2. Piard J, Aral B, Vabres P, Holder-Espinasse M, Megarbane A, Gauthier S et al. Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. Clin Genet. Mar 2015; 87:244-51. https://pubmed.ncbi.nlm.nih.gov/24635570.
          3. Cao DH, Mu K, Liu DN, Sun JL, Bai XZ, et al. Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report. Genet Mol Res. 2015; 14(2):4757-4766. https://pubmed.ncbi.nlm.nih.gov/25966250.
          4. Colombo EA, Mutlu-Albayrak H, Shafeghati Y, Balasar M, Piard J, et al. Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations. Front Pediatr. 2019; 7:210. https://pubmed.ncbi.nlm.nih.gov/31192177.
          5. Baller-Gerold syndrome. National Organization for Rare Disorders (NORD). 2019; https://rarediseases.org/rare-diseases/baller-gerold-syndrome/.

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