BohringâOpitz syndrome | |
---|---|
Other names | OberklaidâDanks syndrome, C-like syndrome |
Specialty |
Medical genetics
![]() |
Complications | obstructive apnea, Wilms tumor, lung infections, heart problems |
Usual onset | Congenital |
BohringâOpitz syndrome (BOS) is a medical syndrome caused by a mutation in the ASXL1 gene.
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 BohringâOpitz 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]
BohringâOpitz syndrome | |
---|---|
Other names | OberklaidâDanks syndrome, C-like syndrome |
Specialty |
Medical genetics
![]() |
Complications | obstructive apnea, Wilms tumor, lung infections, heart problems |
Usual onset | Congenital |
BohringâOpitz syndrome (BOS) is a medical syndrome caused by a mutation in the ASXL1 gene.
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 BohringâOpitz 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]