How is X-linked Opitz G/BBB syndrome inherited?

X-linked Opitz G/BBB syndrome follows an X-linked inheritance pattern. Because the gene is located on the X chromosome, the condition may affect males and females differently.

How is X-linked Opitz G/BBB syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for X-linked Opitz G/BBB syndrome?

Information about treatment is currently limited for this condition.

What complications can arise from X-linked Opitz G/BBB syndrome?

Information about complications from X-linked Opitz G/BBB syndrome is currently limited. However, because this condition affects development, individuals may face challenges that vary widely. It's important to work closely with healthcare providers to monitor any potential issues.

How might X-linked Opitz G/BBB syndrome affect daily life for individuals?

Daily life impacts from X-linked Opitz G/BBB syndrome can vary greatly from person to person. Some individuals may need extra support in learning or physical activities, while others may not face significant challenges. Families should focus on creating a supportive environment that meets the individual's needs.

What is the life expectancy for someone with X-linked Opitz G/BBB syndrome?

Currently, information about the life expectancy for individuals with X-linked Opitz G/BBB syndrome is limited. Because the condition can affect people in different ways, it's important to consult with healthcare professionals for personalized information and support.

Are there specific specialists I should consult for X-linked Opitz G/BBB syndrome?

While specific recommendations for specialists are not detailed, it is generally beneficial to consult with geneticists and developmental specialists for X-linked Opitz G/BBB syndrome. These professionals can help manage symptoms and provide guidance tailored to the individual's needs.

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X-linked Opitz G/BBB syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Telecanthus; and very common findings: Hypertelorism, Difficulty swallowing (dysphagia), and Hypospadias. 40 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	9	Unilateral cleft lip, Laryngeal cleft, Thin upper lip vermilion
Brain and nerves	3	Mild intellectual disability, Difficulty swallowing (dysphagia), Global developmental delay
Digestive system	2	Gastroesophageal reflux, Difficulty swallowing (dysphagia)
Heart and blood vessels	1	Ventricular septal defect
Pregnancy and birth	1	Congenital posterior urethral valve
Growth and development	1	Growth delay

GeneReviews

Clinical Guidance

MID1-related Opitz G/BBB syndrome (MID1-OS) is characterized by facial anomalies, genitourinary abnormalities, laryngotracheoesophageal defects, and congenital heart defects. Developmental delay and intellectual disability are common. Clinical manifestations are most evident in affected males, although wide clinical variability has been described, even among members of the same family. To date, 90 individuals have been identified with a pathogenic variant in MID1 and are reported together with their clinical synopsis [, , , , , , , , , , , , , , ].

Table 2.

MID1-Related Opitz G/BBB Syndrome: Frequency of Select Features in Males

Feature | % of Males w/Feature

Hypertelorism | ~100%

Hypospadias | 90%

Laryngotracheoesophageal defects | 70%

Cleft lip /or palate | 48%

Source: GeneReviews — "MID1-Related Opitz G/BBB Syndrome"

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

For the purposes of this GeneReview, the terms "male" and "female" are narrowly defined as the individual's biological sex at birth as it determines clinical care .

Suggestive Findings

MID1-related Opitz G/BBB syndrome (MID1-OS) should be suspected in a male with the following clinical and imaging findings and family history.

Clinical findings

Source: GeneReviews — "MID1-Related Opitz G/BBB Syndrome"

GeneReviews

Differential Diagnosis

Table 3. Genes of Interest in the Differential Diagnosis of MID1-Related Opitz G/BBB Syndrome

Gene/ Genetic Mechanism	Disorder	MOI	Features of This Disorder
Overlapping w/MID1-OS	Distinguishing from MID1-OS 22q11.2 deletion	22q11.2 deletion syndrome1	AD
CASK	CASK-related FG syndrome/ XL ID ± nystagmus2 (See CASK Disorders.)	XL

Genetic testing for MID1 is available. Testing is considered confirmatory for diagnosis.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for X-linked Opitz G/BBB syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with MID1-related Opitz G/BBB syndrome (MID1-OS), the evaluations summarized in by a multidisciplinary team (including craniofacial surgeon, ophthalmologist, pediatrician, pediatric urologist, cardiologist, pulmonologist, speech-language pathologist, and clinical geneticist) are recommended if they have not already been performed. Table 4. MID1-Related Opitz G/BBB Syndrome: Recommended Evaluations Following Initial Diagnosis

System/Concern	Evaluation	Comment
General	Past medical history physical exam w/attention to palate, heart, genitourinary system, lower respiratory system	Cleft lip /or palate
Urogenital abnormalities	Assessment of hypospadias by urologist, incl ultrasound exam to evaluate for urinary tract dysfunction in males w/severe hypospadias	—
LTE defects	Laryngoscopy chest x-ray in persons who have choking w/feeding, recurrent pneumonia, /or aspiration	—
Developmental delay	Developmental eval	—
Congenital heart disease	Echocardiogram	—

Source: GeneReviews — "MID1-Related Opitz G/BBB Syndrome"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "MID1-Related Opitz G/BBB Syndrome"

Clinical Trials

View trials for X-linked Opitz G/BBB syndrome

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. MID1-Related Opitz G/BBB Syndrome: Recommended Surveillance

System/Concern	Evaluation	Frequency
Cleft lip/palate	Craniofacial team follow up for those w/cleft lip/palate	Per craniofacial specialists
Hearing	Audiology eval	Annually or as needed
Urogenital abnormalities	Urology follow up for those w/significant hypospadias /or other urinary tract abnormalities	Per urologist /or nephrologist
LTE defects	Gastroenterology, pulmonology, /or surgical team follow up for those w/LTE defects	As needed
Development	Monitoring of developmental progress educational needs	At each visit
Congenital heart disease	Cardiac follow up for those w/cardiac defects	Per cardiologist
Anal abnormalities	Gastroenterology /or surgical follow up for those w/anal defects	Per gastroenterologist or surgical team
Ophthalmologic manifestations	Ophthalmology assessment	Per ophthalmologist
Family/Community	Assess family need for social work support (e.g., palliative/respite care, home nursing, other local resources), care coordination, or follow-up genetic counseling if new questions arise (e.g., family planning).	At each visit LTE = laryngotracheoesophageal

Source: GeneReviews — "MID1-Related Opitz G/BBB Syndrome"

Phenotype severity distribution: 1 always present feature, 3 very common features, 4 common features.

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300000

Orphanet

European rare disease database

Orphanet:306597

Questions for Your Care Team

→Should female family members consider carrier screening for MID1?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about X-linked Opitz G/BBB syndrome

X-linked Opitz G/BBB syndrome is a rare genetic condition. It is defined as the X-linked form of Opitz G/BBB syndrome and is associated with changes in specific genes, such as MID1. The condition is inherited in an X-linked pattern, which means the gene change is passed through the X chromosome. This can result in a range of features that may vary from person to person.

Information about symptoms is currently limited for this condition.

This condition is linked to changes in the MID1 gene on the X chromosome. Because it follows an X-linked inheritance pattern, the syndrome is more frequently observed in males, while females may serve as carriers. The specific genetic change in MID1 disrupts normal development, though details about how it causes the range of symptoms are still being studied. Associated genes include MID1.

Kisho

X-linked Opitz G/BBB syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

X-linked Opitz G/BBB syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is X-linked Opitz G/BBB syndrome?

What are the symptoms of X-linked Opitz G/BBB syndrome?

What causes X-linked Opitz G/BBB syndrome?

How is X-linked Opitz G/BBB syndrome inherited?

How is X-linked Opitz G/BBB syndrome diagnosed?

Are there treatments for X-linked Opitz G/BBB syndrome?

What complications can arise from X-linked Opitz G/BBB syndrome?

How might X-linked Opitz G/BBB syndrome affect daily life for individuals?

What is the life expectancy for someone with X-linked Opitz G/BBB syndrome?

Are there specific specialists I should consult for X-linked Opitz G/BBB syndrome?