Bohring-Opitz Syndrome – Definition
Bohring-Opitz syndrome (BOS, OMIM #605039) is characterized by an intellectual disorder, characteristic facial features, and multiple anomalies. There is probably an increased risk of Wilms’ tumors.
Synonyms:
C-like syndrome, Oberklaid-Danks syndrome
Gene:
ASXL1 (not all patients carry a mutation, which is why heterogeneity is assumed; KLHL7 has been described as a recessive gene)
Gene product:
ASXL1
Funktion:
regulation of HOX genes; chromatin remodeling
Pattern of inheritance:
autosomal dominant (germline mosaic described in parents)
Prevalence:
extremely rare
Genotype-phenotype correlation:
unknown
Penetrance:
unknown
Bohring-Opitz Syndrome – Diagnostic Assessment
Diagnosis
The diagnosis is made clinically and confirmed by genetic analysis. The diagnosis of “Bohring-Opitz syndrome” is confirmed by detecting a heterozygous germline mutation of the ASXL1 gene by sequence or deletion/duplication analysis. Using panel examinations, in which several genes are recorded, exome or genome sequencing can also be helpful.
Differential Diagnoses
- C syndrome (Opitz trigonocephaly syndrome)
- Shashi-Pena syndrome(ASXL2 syndrome)
- Bainbridge-Ropers syndrome(ASXL3 syndrome)
- Cornelia de Lange syndrome (CdLS)
- KLHL7-associated syndrome
Clinical Presentation
Clinical Presentation
Severe growth failure, feeding problems, severe developmental delay and retardation, typical facial features, microcephaly, hirsutism of the forehead, cleft lip and palate, retinal changes, flexion anomalies of the upper extremities with dislocation of the radial head and ulnar deviation of the fingers, changes in the lower extremities, structural brain changes, seizures, and other abnormalities characterize BOS. Approximately 40% of patients die during early childhood, typically due to bradycardia, obstructive apnea, or pulmonary infection. In survivors, the characteristic facial features may regress over time. Girls are more frequently affected than boys. There is probably an increased risk of Wilms’ tumors.
Special Features of Treatment
A multidisciplinary team should carry out treatment.
Diagnosis of Bohring-Opitz Syndrome- What's Next?
Once diagnosed, it is recommended that the patient be managed by a cancer predisposition specialist. The following section explains whether cancer screening tests or other measures are necessary and how they should be performed. There is also some additional information at the end of this page, including links to support groups.
Diagnosis of Bohring-Opitz Syndrome- What's Next?
Once diagnosed, it is recommended that the patient be managed by a cancer predisposition specialist. The following section explains whether cancer screening tests or other measures are necessary and how they should be performed. There is also some additional information at the end of this page, including links to support groups.
Recommendations for Early Detection in Your Patients
Due to the presumably increased risk of Wilms’ tumors, sonographic examinations of the kidneys every 3 months up to the age of 7 can be considered.
Bohring-Opitz Syndrome – Further Information
Open Clinical Trials/ Registries
We encourage physicians to register their patients in our CPS Registry.
