Living with Opitz G/BBB syndrome
A genetic condition causing differences along the middle of the body, including widely spaced eyes, throat differences, and genital differences in males.
Understanding Opitz G/BBB syndrome
Nearly everyone has widely spaced eyes. Many have differences in the voice box, windpipe, or esophagus that can cause swallowing or breathing trouble, such as a gap between the windpipe and esophagus (laryngeal cleft). Most males have genital differences such as hypospadias. About half have mild intellectual disability and developmental delay. GARD lists onset as during pregnancy, at birth, and as an infant.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Widely spaced eyes
- Laryngeal cleft or other throat differences
- Cleft lip or palate
- Hypospadias in males
- Intellectual disability and developmental delay
- Learning difficulties and short attention span
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, digestive system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in MID1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
American Cleft Palate Craniofacial Association and International 22q11.2 Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: American Cleft Palate Craniofacial Association, International 22q11.2 Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with American Cleft Palate Craniofacial Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the MID1 gene cause the X-linked form of this condition. GARD says there is also an autosomal dominant form, and the two forms are distinguished by their genetic causes and inheritance patterns.
Also known as: hypertelorism-hypospadias syndrome; hypertelorism-oesophageal abnormality-hypospadias syndrome; hypospadias-dysphagia syndrome; hypospadias-hypertelorism syndrome; opitz bbb/g syndrome; opitz bbbg syndrome
Patient organizations
- American Cleft Palate Craniofacial AssociationOpitz G/BBB syndrome · United States
- International 22q11.2 FoundationOpitz G/BBB syndrome · United States
- FACES: The National Craniofacial AssociationOpitz G/BBB syndrome · United States
- National Foundation of Swallowing DisordersOpitz G/BBB syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Opitz G/BBB syndrome.
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