There are two forms of Opitz G/BBB syndrome, which are distinguished by their genetic causes and patterns of inheritance. The X-linked form is caused by mutations in the MID1 gene. Autosomal dominant Opitz G/BBB syndrome is caused by a deletion of 22q11.2, and is often referred to as 22q11.2 deletion syndrome.Treatment depends on the individual’s specific needs.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the pharynx||90%|
|Displacement of the external urethral meatus||90%|
|Abnormality of the voice||50%|
|Increased number of teeth||7.5%|
|Low-set, posteriorly rotated ears||7.5%|
|Prominent metopic ridge||7.5%|
|Reduced number of teeth||7.5%|
|Sensorineural hearing impairment||7.5%|
|Abnormality of cardiovascular system morphology||-|
|Abnormality of the kidney||-|
|Abnormality of the nasopharynx||-|
|Abnormality of the ureter||-|
|Agenesis of corpus callosum||-|
|Aplasia/Hypoplasia of the cerebellar vermis||-|
|Atria septal defect||-|
|Autosomal dominant inheritance||-|
|Cavum septum pellucidum||-|
|Cerebellar vermis hypoplasia||-|
|Cerebral cortical atrophy||-|
|Cleft upper lip||-|
|Coarctation of aorta||-|
|Conductive hearing impairment||-|
|Depressed nasal bridge||-|
|Patent ductus arteriosus||-|
|Posterior pharyngeal cleft||-|
|Posteriorly rotated ears||-|
|Short lingual frenulum||-|
|Ventricular septal defect||-|
|Wide nasal bridge||-|
|X-linked recessive inheritance||-|
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We have been told that my son has Opitz G syndrome. The hospital did not do any tests, they just looked in a book. How can we be sure that he has this condition? Is there a cure? Can it be treated? See answer
My son was diagnosed with Opitz G/BBB syndrome and I was wondering if you can provide any information about this syndrome. I would like to have a full understanding of my son and his condition. See answer