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Baller-Gerold syndrome
ICD-10 Codes
Related ICD-10:
Description
Baller-Gerold Syndrome Description
Baller-Gerold syndrome is a rare genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands. The cardinal features of this syndrome are craniosynostosis, which most often affects the coronal suture, and radial ray anomalies, including oligodactyly, aplasia or hypoplasia of the thumb, and aplasia or hypoplasia of the radius.
People with Baller-Gerold syndrome may also experience upper limb abnormalities, such as a combination of thumb hypo- or aplasia and radial hypo- or aplasia, which can be asymmetric. The symptoms of Baller-Gerold syndrome overlap with features of other genetic disorders, including Rothmund-Thomson syndrome and RAPADILINO syndrome.
Key Features:
- Premature fusion of certain skull bones (craniosynostosis)
- Abnormalities of bones in the arms and hands
- Craniosynostosis most often affects the coronal suture
- Radial ray anomalies, including oligodactyly, aplasia or hypoplasia of the thumb, and aplasia or hypoplasia of the radius
- Upper limb abnormalities, such as a combination of thumb hypo- or aplasia and radial hypo- or aplasia
References:
[1] The symptoms of Baller-Gerold syndrome overlap with features of other genetic disorders, including Rothmund-Thomson syndrome and RAPADILINO syndrome. [3] [2] People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head from ear to ear. [5] [4] The cardinal features of this syndrome are craniosynostosis and radial defects. However, a large number of variable defects such as imperforate or anteriorly placed thumbs have been reported in association with BGS. [9] [6] Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies. [7] [8] The cardinal features of the Baller-Gerold syndrome are
Additional Characteristics
- Premature fusion of certain skull bones (craniosynostosis)
- Abnormalities of bones in the arms and hands
- Craniosynostosis most often affects the coronal suture
- Radial ray anomalies, including oligodactyly, aplasia or hypoplasia of the thumb, and aplasia or hypoplasia of the radius
- Upper limb abnormalities, such as a combination of thumb hypo- or aplasia and radial hypo- or aplasia
Signs and Symptoms
Baller-Gerold syndrome is a rare genetic disorder that affects various parts of the body. The signs and symptoms of this condition can vary from person to person, but some common features include:
- Slow growth beginning in infancy: People with Baller-Gerold syndrome may experience slow growth rates starting from birth or early childhood [1].
- Small stature: Individuals with this condition often have small stature compared to their peers [1][3].
- Malformed thumbs and forearms: Radial ray anomalies, such as missing or malformed thumbs and forearms, are a hallmark of Baller-Gerold syndrome [4][6][7][8].
- Growth delay: People with this condition may experience growth delays, which can be noticeable in infancy or early childhood [5].
- Skin issues: Some individuals with Baller-Gerold syndrome may exhibit skin problems like poikiloderma, characterized by patchy skin breakdown and discoloration [7][8].
It's essential to note that not everyone with Baller-Gerold syndrome will experience all of these symptoms. The severity and combination of signs can vary significantly from person to person.
References: [1] Aug 1, 2013 — People with Baller-Gerold syndrome may have a variety of additional signs and symptoms including slow growth beginning in infancy, small ... [3] Aug 1, 2013 — People with Baller-Gerold syndrome may have a variety of additional signs and symptoms including slow growth beginning in infancy, small stature ... [4] Aug 13, 2007 — These signs and symptoms may include bone pain, swelling, and/or limp for osteosarcoma, and lymph node enlargement or generalized symptoms such ... [5] People with Baller-Gerold syndrome may have a variety of additional signs and symptoms including slow growth beginning in infancy, small stature, and malformed ... [6] Baller–Gerold syndrome (BGS) is a rare genetic syndrome that involves premature fusion of the skull bones and malformations of facial, forearm and hand bones. [7] Malformed or absent thumbs; Partial or complete absence of bones in the forearm; Growth delay; Patchy skin breakdown and discoloration (poikiloderma). People ... [8] It involves radial ray anomalies, such as missing or malformed thumbs and forearms. Individuals may also exhibit skin issues like poikiloderma. The syndrome is ...
Additional Symptoms
- Growth delay
- Swelling
- Lymph node enlargement
- Slow growth beginning in infancy
- Small stature
- Malformed thumbs and forearms
- Skin issues (poikiloderma)
- Limp
- Generalized symptoms
- bone pain
Diagnostic Tests
Baller-Gerold syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands. To diagnose this condition, several diagnostic tests can be employed.
Molecular Genetic Testing The diagnosis of Baller-Gerold syndrome is established through molecular genetic testing, which involves identifying biallelic pathogenic variants in the RECQL4 gene on chromosome 8p24 [3][5]. This test can be performed using targeted variant analysis or sequence analysis of the entire coding region of the gene.
Other Diagnostic Tests In addition to molecular genetic testing, other diagnostic tests may be used to confirm the diagnosis of Baller-Gerold syndrome. These include:
- Imaging studies: Imaging studies such as X-rays, CT scans, and MRI can help identify craniosynostosis and limb abnormalities associated with this condition [9].
- Blood tests: Blood tests can be used to collect DNA samples for genetic testing.
- Extracted DNA testing: Extracted DNA testing involves analyzing a DNA sample from the patient's blood or other tissue.
- Buccal Swab or Saliva testing: Buccal swab or saliva testing can also be used to collect a DNA sample.
Prenatal Diagnosis Prenatal diagnosis by chorionic villus sampling (CVS) is suggested when pathogenic mutations of the RECQL4 gene are found in an index case (homozygous or heterozygous). Ultrasound can be used to identify limb anomalies and an abnormally shaped cranium [9].
It's worth noting that a diagnosis of Baller-Gerold syndrome should only be made by a qualified medical professional, such as a geneticist or a pediatrician.
References: [3] - The diagnosis of Baller-Gerold syndrome is established in a proband with typical clinical findings and/or by identification of biallelic pathogenic (or likely pathogenic) variants in RECQL4 on molecular genetic testing. [5] - April 10, 2024 - Baller–Gerold syndrome is caused by a mutation in the RECQL4 gene found on chromosome 8p24. Molecular genetic tests used to identify mutations in the RECQL4 gene include targeted variant analysis and sequence analysis of the entire coding region of the gene
Additional Diagnostic Tests
- Blood tests
- Molecular Genetic Testing
- Imaging studies (X-rays, CT scans, MRI)
- Extracted DNA testing
- Buccal Swab or Saliva testing
- Prenatal Diagnosis by Chorionic Villus Sampling (CVS)
Treatment
Treatment Overview
Baller-Gerold syndrome, a rare genetic condition, requires management of its symptoms rather than a specific drug treatment. The primary focus is on addressing the premature fusion of skull bones and malformations in facial, forearm, and hand bones.
- Surgical Intervention: Surgery to correct bilateral craniosynostosis (premature fusion of skull bones) is typically performed before six months of age [5].
- Pollicization: In some cases, pollicization of the index finger may be necessary for thumb reconstruction [1].
No Specific Drug Treatment
There is no specific drug treatment available for Baller-Gerold syndrome. The condition has been associated with prenatal exposure to sodium valproate, a medication used to treat certain medical conditions [2][6]. However, this association does not imply that the condition can be treated with the same medication.
Management of Symptoms
Treatment for Baller-Gerold syndrome focuses on managing its symptoms. This may include surgery to correct skeletal abnormalities and other interventions as needed [9].
References:
[1] Context 1 [2] Context 2 [5] Context 5 [6] Context 6 [9] Context 9
Recommended Medications
- No specific drug treatment available for Baller-Gerold syndrome
- Treatment focuses on managing symptoms rather than using a specific drug
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Baller-Gerold Syndrome
Baller-Gerold syndrome,
Additional Differential Diagnoses
Additional Information
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