National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Baller-Gerold syndrome


Other Names:
BGS; Craniosynostosis-radial aplasia syndrome; Craniosynostosis with radial defects
Categories:
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]
Last updated: 4/29/2020
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]

 

Last updated: 4/29/2020

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.

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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
Downward slanting of the opening between the eyelids
0000494
Flat forehead
Flattened forehead
0004425
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypoplasia of the radius
Underdeveloped outer large forearm bone
0002984
Hypoplasia of the ulna
Underdeveloped inner large forearm bone
0003022
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Lambdoidal craniosynostosis 0004443
Limited elbow movement
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion
[ more ] 		0002996
Limited shoulder movement 0006467
Low-set, posteriorly rotated ears 0000368
Midface capillary hemangioma 0007452
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Optic atrophy 0000648
Patellar hypoplasia
Small kneecap
Underdeveloped kneecap
[ more ] 		0003065
Perineal fistula 0004871
Polymicrogyria
More grooves in brain
0002126
Rectovaginal fistula
Abnormal connection between rectum and vagina
0000143
Rib fusion
Fused ribs
0000902
Sagittal craniosynostosis
Early closure of midline skull joint
Midline skull joint closes early
[ more ] 		0004442
Seizure 0001250
Short humerus
Short long bone of upper arm
Short upper arms
[ more ] 		0005792
Spina bifida occulta 0003298
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Ulnar bowing
Curving of inner forearm bone
0003031
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430
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Last updated: 7/1/2020
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]
Last updated: 4/29/2020
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] 
Last updated: 4/29/2020

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 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
Last updated: 4/29/2020
Baller-Gerold syndrome is very rare. About 70 cases have been reported in the literature and it is thought that about 1 in 1,000,000 people have BGS. The exact incidence of this condition is unknown.[1][2][4]
Last updated: 4/29/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related 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.

Conditions with similar signs and symptoms from Orphanet
The principal differential diagnoses include Rothmund-Thomson syndrome (RTS) and RAPADILINO syndrome, also secondary to mutations of the RECQL4 gene (see these terms). A phenotypic continuum between these diseases has been suggested by numerous authors: it is possible that they represent different expressions of the same pathology. Other differential diagnoses include Roberts syndrome and Fanconi anemia, which are frequently associated with radial ray anomalies but rarely with craniosynostosis, and Saethre-Chotzen syndrome which is characterized by coronal craniosynostosis usually without radial ray anomalies (see these terms). The combinationof craniosynostosis and radial ray hypoplasia is also associated with fetal valproic syndrome (see this term). The presence of poikiloderma allows other pathologies to be excluded.
Visit the Orphanet disease page for more information.

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

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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Van Maldergem L. Baller-Gerold Syndrome. GeneReviews. Updated Apr. 19, 2018; http://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/.