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Bohring–Opitz syndrome

Medical condition

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

Bohring–Opitz syndrome (BOS) is a medical syndrome caused by a mutation in the ASXL1 gene.

Presentation[edit]

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]}

Genetics[edit]

Genetically, de novo truncating mutationsinASXL1 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]}

Diagnosis[edit]

As some of these features are shared with other genetic syndromes, the diagnosis is made by genetic testing.^{[citation needed]}

Epidemiology[edit]

The syndrome is extremely rare, with fewer than 80 reported cases worldwide.^{[citation needed]}

References[edit]

External links[edit]

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