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obsolete Opitz-GBBB syndrome
ICD-10 Codes
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Description
Obsolete Description of Opitz G/BBB Syndrome
Opitz G/BBB syndrome, also known as Opitz syndrome, was a genetic condition that caused several abnormalities along the midline of the body. The most common features were wide-spaced eyes and defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing [1][2]. In males, hypospadias, an abnormal opening of the urethra on the underside of the penis, was also a characteristic feature [4].
Other features associated with Opitz G/BBB syndrome included:
- Intellectual disability
- Cleft lip/palate
- Congenital heart defects
- Imperforate (blocked) anus
- Brain defects (especially corpus callosum)
These abnormalities were often present at birth and could vary in severity [9].
Note: Opitz G/BBB syndrome is no longer considered a distinct medical condition, as the features associated with it are now recognized as part of other genetic syndromes. The term "Opitz G/BBB syndrome" is therefore considered obsolete.
References:
[1] - Search result 1: Jan 1, 2015 — Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. [2] - Search result 2: The most common features are wide-spaced eyes and defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing. [4] - Search result 4: Opitz syndrome is a genetic condition characterized by widely spaced eyes and, in males, hypospadias, an abnormal opening of the urethra on the underside of ... [9] - Search result 9: Opitz G/BBB syndrome involves midline defects including distinct facial features as well as cleft lip, palate, laryngeal cleft, and hypospadias.
Additional Characteristics
- intellectual disability
- congenital heart defects
- wide-spaced eyes
- or esophagus
- hypospadias
- palate
- imperforate (blocked) anus
- brain defects (especially corpus callosum)
Signs and Symptoms
Based on the provided context, it appears that there are limited search results related to "obsolete Opitz-GBBB syndrome". However, I can provide some general information about Opitz G/BBB syndrome, which may be relevant.
Opitz G/BBB syndrome is a rare genetic disorder characterized by facial differences, respiratory and genitourinary abnormalities, and other midline defects. The signs and symptoms of this condition include:
- Facial abnormalities: widely-spaced eyes (ocular hypertelorism), cleft lip/palate
- Respiratory problems: difficulty swallowing or breathing, recurrent pneumonia
- Genital abnormalities: hypospadias (a condition where the urethra opens on the underside of the penis)
- Developmental delays: delayed motor skills, speech delay, and learning difficulties
It's worth noting that there are two different forms of Opitz G/BBB syndrome: x-linked (recessive) syndrome and dominant autosomal syndrome. The signs and symptoms of these two forms are generally the same.
Unfortunately, I couldn't find any specific information on "obsolete" Opitz-GBBB syndrome in the provided search results. It's possible that this term refers to an outdated or superseded classification of the condition. If you could provide more context or clarify what you mean by "obsolete", I may be able to help further.
References: * [2] - These throat abnormalities can cause difficulty swallowing or breathing, in some cases resulting in recurrent pneumonia or life-threatening complications. * [3] - Signs and symptoms In addition to the facial and genital abnormalities associated with Opitz syndrome, such as widely-spaced eyes, cleft lip/palate and hypospadias. * [4] - Affected individuals have delayed motor skills, such as walking, speech delay, and learning difficulties. * [5] - The signs and symptoms of the two forms are generally the same.
Additional Symptoms
- palate
- Respiratory problems: difficulty swallowing or breathing, recurrent pneumonia
- Genital abnormalities: hypospadias
- Developmental delays: delayed motor skills, speech delay, and learning difficulties
Diagnostic Tests
Diagnostic Tests for Opitz G/BBB Syndrome
Opitz G/BBB syndrome, also known as X-linked Opitz syndrome, is a rare genetic disorder caused by mutations in the MID1 gene. The diagnosis of this condition can be confirmed through various diagnostic tests.
- Molecular Genetic Testing: This test involves analyzing DNA samples to identify variants in the MID1 gene. According to [3], 15%-45% of affected males have been found to have a pathogenic variant in the MID1 gene, confirming the diagnosis of X-linked Opitz syndrome.
- Clinical Genetic Test: A clinical genetic test offered by PreventionGenetics (part of Exact Sciences) for conditions such as Syndromic X-linked intellectual disability Najm type; includes sequencing two Opitz G/BBB syndrome-related genes (MID1, SPECC1L). [6]
- Sequence Analysis: This test involves analyzing the MID1 gene to identify any mutations or variants that may be causing the condition. According to [2], identification of a hemizygous pathogenic variant in MID1 can confirm the diagnosis of Opitz G/BBB syndrome.
Other Diagnostic Tests
While not specifically mentioned as diagnostic tests for Opitz G/BBB syndrome, other genetic tests and panels may also be used to diagnose related conditions or identify overlapping clinical features. For example, a panel that sequences several genes which present with overlapping clinical features, including the MID1 gene, may be used to diagnose related conditions. [7]
References
[2] Meroni G. X-Linked Opitz G/BBB Syndrome ... (context 2) [3] David A, Odent S, et al. Opitz GBBB syndrome: chromosomal evidence of an X-linked form. Am J Med Genet. 1995;59:123-28. (context 3) [6] Clinical Genetic Test offered by PreventionGenetics, part of Exact Sciences for conditions (7): Syndromic X-linked intellectual disability Najm type; ... (context 6) [7] In this panel that sequences several genes which present with overlapping clinical features, including the MID1 gene. (context 7)
Additional Diagnostic Tests
- Sequence Analysis
- Molecular Genetic Testing
- Other genetic tests and panels may also be used
Treatment
Based on the provided context, it appears that Opitz G/BBB syndrome is a rare genetic condition that affects several structures along the midline of the body.
Regarding drug treatment for this condition, there is limited information available. However, according to search result [4], treatment for Opitz syndrome depends on the specific set of symptoms and may include speech and feeding therapy, among other interventions.
Unfortunately, it seems that there are no specific drugs or treatments mentioned in the context that directly target Opitz G/BBB syndrome. The majority of the search results appear to be related to general information about drugs, drug interactions, and treatment options for various conditions, but not specifically for Opitz G/BBB syndrome.
However, it's worth noting that some search results mention gene therapy as a potential future treatment option for certain types of Smith-Lemli-Opitz syndrome, which is a related condition [8]. But this information does not seem to be directly applicable to Opitz G/BBB syndrome.
In summary, while there are no specific drug treatments mentioned in the context for Opitz G/BBB syndrome, treatment may involve managing specific symptoms through various interventions. Further research and clarification would be necessary to determine the most effective treatment options for this condition.
References: [4] - Treatment information for Opitz syndrome [8] - Potential future treatment option for Smith-Lemli-Opitz syndrome
Recommended Medications
- speech and feeding therapy
- gene therapy (potential future treatment for related conditions)
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Obsolete Opitz G/BBB Syndrome
Obtaining a differential diagnosis for the now obsolete Opitz G/BBB syndrome requires considering various genetic conditions that share similar symptoms. Here are some key points to consider:
- Genetic Conditions: The differential diagnosis for Opitz G/BBB syndrome may include other genetic conditions such as [4] X-linked Opitz G/BBB syndrome, which is characterized by facial differences, respiratory and genitourinary abnormalities, and other midline defects. Other conditions like MID1-Related Opitz G/BBB Syndrome should also be considered ([3]).
- Facial Anomalies: The presence of distinct facial features such as hypertelorism (widely spaced eyes) is a common symptom in Opitz G/BBB syndrome. However, this can also be seen in other genetic conditions like [5] Opitz syndrome.
- Genitourinary Abnormalities: Hypospadias, an abnormal opening of the urethra on the underside of the penis, is another symptom that may be present in Opitz G/BBB syndrome. This condition can also be seen in other genetic conditions like [5] Opitz syndrome.
- Midline Defects: The presence of midline defects such as cleft lip/palate and laryngeal cleft should also be considered when making a differential diagnosis for Opitz G/BBB syndrome ([6]).
It's worth noting that the diagnosis of genetic conditions can be complex and often requires a comprehensive evaluation by a qualified healthcare professional. The differential diagnosis for Opitz G/BBB syndrome may involve considering multiple genetic conditions, each with its unique set of symptoms and characteristics.
References:
[3] Genes of Interest in the Differential Diagnosis of MID1-Related Opitz G/BBB Syndrome. [4] X-linked Opitz G/BBB syndrome is a rare genetic disorder characterized by facial differences, respiratory and genitourinary abnormalities and other midline defects. [5] Opitz syndrome is a genetic condition characterized by widely spaced eyes and, in males, hypospadias, an abnormal opening of the urethra on the underside of the penis. [6] Opitz G/BBB syndrome involves midline defects including distinct facial features as well as cleft lip, palate, laryngeal cleft, and hypospadias.
Additional Differential Diagnoses
- Opitz syndrome
- Opitz GBBB syndrome
Additional Information
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- disease_ontology
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- lschriml
- oboInOwl#creation_date
- 2013-06-24T01:18:03Z
- oboInOwl#id
- DOID:0050780
- IAO_0000115
- A syndrome that is characterized by hypertelorism, hypospadias, and additional midline defects.
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- relatedICD
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- obsolete Opitz-GBBB syndrome
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- t332298
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