Bohring–Opitz syndrome
Medical condition
From Wikipedia, the free encyclopedia
Bohring–Opitz syndrome (BOS) is a genetic disorder caused by mutations in the ASXL1 gene.
| Bohring–Opitz syndrome | |
|---|---|
| Other names | Oberklaid–Danks syndrome, C-like syndrome |
| Specialty | Medical genetics  |
| Complications | obstructive apnea, Wilms tumor, lung infections, heart problems |
| Usual onset | Congenital |
Presentation
This condition is characterised by 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.[2]
Genetics
Genetically, de novo truncating mutations in ASXL1 have been shown to account for approximately 50% of Bohring–Opitz syndrome cases.[3][4]
A second gene associated with this condition is the Kelch-like family member 7 (KLHL7).[citation needed]
Diagnosis
As some of these features are shared with other genetic syndromes, the diagnosis is made by genetic testing.[citation needed]
Epidemiology
The syndrome is extremely rare, with fewer than 80 reported cases worldwide.[citation needed]
