Clinical Guidance

No formal genotype-phenotype correlations have been made owing to the small number of affected individuals reported to date.

Source: GeneReviews — "Baller-Gerold Syndrome"

Diagnostic Criteria

Suggestive Findings

Baller-Gerold syndrome should be suspected in individuals with a combination of the following findings:

• Coronal craniosynostosis, manifest clinically as abnormal shape of the skull (brachycephaly) with ocular proptosis and prominent forehead and confirmed by skull x-ray or (preferably) 3D-CT reconstruction

When the coronal sutures are fused, the orbit is pulled forward. The coronal sutures cannot be discerned on the frontal view, and the same holds true for the lambdoidal sutures.

• Radial ray defect, manifest as aplasia or hypoplasia of the thumb, and/or aplasia or hypoplasia of the radius

Note: Radiographs may be necessary for confirmation of minor radial ray malformations.

• Growth restriction

Source: GeneReviews — "Baller-Gerold Syndrome"

Differential Diagnosis

The major differential diagnosis for Baller-Gerold syndrome (BGS) comprises the allelic disorders Rothmund-Thomson syndrome and RAPADILINO syndrome (OMIM 266280). (See .) See . Additional conditions to consider are included in . Table 2. Disorders to Consider in the Differential Diagnosis of BGS

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease in an individual diagnosed with Baller-Gerold syndrome (BGS), the following are recommended if they have not already been completed:

• Consultation with a clinical geneticist and/or genetic counselor

• Neurosurgery or craniofacial specialist consultation for evaluation of craniosynostosis

• Orthopedic surgery and occupational therapy assessment to evaluate hand and arm function and need for surgery

• Dermatology evaluation if poikiloderma develops

Treatment of Manifestations

Craniosynostosis should be managed by neurosurgical/craniofacial specialists. When craniosynostosis is bilateral, surgery is usually performed before age six months. Pollicization of the index finger to restore a functional grasp has had satisfactory results in a number of persons with absence of the thumb . However, many children with aplasia of the thumb are able to function without orthopedic surgical intervention. If poikiloderma is present, sensible use of sunscreens may protect against potential risk for skin cancer due to UV exposure. If cancer arises, medical care should be sought from an oncologist familiar with the type of cancer.

Surveillance

Although lymphoma has only been described in one individual with BGS to date , it is known that individuals with RECQL4 pathogenic variants associated with both Rothmund-Thomson syndrome and RAPADILINO syndrome are at increased risk for developing osteosarcoma and lymphoma.

Source: GeneReviews — "Baller-Gerold Syndrome"

Clinical Guidance

Excessive sun exposure should be avoided because of the theoretic increased risk for skin cancer.

Source: GeneReviews — "Baller-Gerold Syndrome"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Baller-Gerold Syndrome"

Surveillance Guidelines

Although lymphoma has only been described in one individual with BGS to date , it is known that individuals with RECQL4 pathogenic variants associated with both Rothmund-Thomson syndrome and RAPADILINO syndrome are at increased risk for developing osteosarcoma and lymphoma. Given the potential risk, it would be reasonable for affected individuals with BGS and RECQL4 pathogenic variants (or their guardians) to be aware of the signs and symptoms associated with these malignancies. These signs and symptoms may include bone pain, swelling, and/or limp for osteosarcoma, and lymph node enlargement or generalized symptoms such as fever or unexplained weight loss for lymphoma.

Source: GeneReviews — "Baller-Gerold Syndrome"