Bohring-Opitz_syndrome
Bohring–Opitz syndrome
Medical condition
Bohring–Opitz syndrome (BOS) is a medical syndrome caused by a mutation in the ASXL1 gene.
Bohring–Opitz syndrome | |
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Other names | Oberklaid–Danks syndrome, C-like syndrome |
Specialty | Medical genetics |
Complications | obstructive apnea, Wilms tumor, lung infections, heart problems |
Usual onset | Congenital |
This condition is characterised by characteristic craniofacial appearance, fixed contractures of the upper limbs, abnormal posture, feeding difficulties, intellectual disability, small size at birth and failure to thrive.[1]
Children with BOS can also have recurring respiratory infections, silent aspiration, sleep apnea, developmental delay, abnormal hair density and length, Wilms' tumors, brain abnormalities, and other issues.[citation needed]
Genetically, de novo truncating mutations in ASXL1 have been shown to account for approximately 50% of Bohring–Opitz syndrome cases.[2][3]
A second gene associated with this condition is the Kelch-like family member 7 (KLHL7).[citation needed]
As some of these features are shared with other genetic syndromes, the diagnosis is made by genetic testing.[citation needed]
The syndrome is extremely rare, with fewer than 80 reported cases worldwide.[citation needed]
- Hastings R; Cobben JM; Gillessen-Kaesbach G; et al. (2011). "Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis". European Journal of Human Genetics. 19 (5): 513–519. doi:10.1038/ejhg.2010.234. PMC 3083618. PMID 21368916.
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