syndromic microphthalmia 12

Syndromic microphthalmia-12, also known as MCOPS12, is a rare genetic syndrome characterized by the association of small eyeballs (microphthalmia) with other non-ocular malformations.

• Microphthalmia: One or both eyeballs are abnormally small in size [4].
• Pulmonary hypoplasia: The lungs are too small, which can lead to breathing difficulties and other respiratory problems [1].
• Other associated anomalies: Individuals with syndromic microphthalmia-12 may also experience other non-ocular malformations, although the specific features can vary from person to person.

Syndromic microphthalmia-12 is caused by mutations in the RARB gene, which plays a crucial role in eye and lung development [9]. This genetic mutation leads to the characteristic small eyeballs and underdeveloped lungs associated with this syndrome.

Syndromic Microphthalmia Signs and Symptoms

Syndromic microphthalmia, also known as Lenz microphthalmia syndrome, is a rare genetic disorder that affects the development of the eyes and other parts of the body. The signs and symptoms of this condition can vary widely among affected individuals.

• Eye Abnormalities: People with syndromic microphthalmia may have one or both eyes that are significantly smaller than normal (microphthalmia) or even missing (anophthalmia).
• Vision Problems: This condition can cause vision loss or blindness in one or both eyes.
• Other Organ and Tissue Abnormalities: Syndromic microphthalmia is often associated with abnormalities in other organs and tissues, such as the brain, heart, and genitourinary system.

According to [12], people with syndromic microphthalmia may also experience other symptoms, including:

• Abnormal Skin Markings: Some individuals may have characteristic skin markings or defects.
• Developmental Delays: Affected individuals may experience severe global developmental delays, which can progress over time due to spasticity and/or uncontrolled repetitive muscular movements.

It's essential to note that the severity and range of symptoms can vary significantly among affected individuals, even within the same family. [4]

References:

• [12] Microphthalmia can also be part of a syndrome that causes other issues in the body.
• [4] The signs and symptoms of microphthalmia with linear skin defects syndrome vary widely, even among affected individuals within the same family.

Diagnostic Tests for Syndromic Microphthalmia 12

Syndromic microphthalmia 12, a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and other systemic malformations, can be diagnosed through various tests. Here are some of the diagnostic tests used to diagnose syndromic microphthalmia 12:

• Genetic testing: Molecular diagnosis can be made through genetic testing, such as array comparative genomic hybridization (aCGH) or whole exome/genome sequencing [7]. This test can identify pathogenic variants in genes associated with syndromic microphthalmia 12.
• Chromosomal Microarray Analysis (CMA): CMA is a diagnostic test that analyzes the genetic material of an individual to detect chromosomal abnormalities, including deletions and duplications. A supplementary deletion/duplication diagnostic test should be performed for genes with a known proportion of large genomic deletions [10].
• Imaging tests: Imaging tests such as ultrasound, CT scan, and MRI may reveal structural abnormalities in the eyes, brain, and other organs associated with syndromic microphthalmia 12. For example, MRI may show optic nerve aplasia/hypoplasia, hippocampal malformations, structural abnormalities of the pituitary gland, and agenesis of the corpus callosum [3].
• Clinical tests: Clinical tests such as physical examination, medical history, and laboratory tests can help diagnose syndromic microphthalmia 12. A healthcare provider can identify anophthalmia and microphthalmia through an ultrasound or a CT scan during pregnancy or after birth [13][15].

It's essential to note that diagnostic testing is recommended with CMA and/or molecular genetic testing based on associated anomalies, and prognostic counseling is dependent on the severity of microphthalmia, associated findings, and the underlying diagnosis [14].

Based on the search results, it appears that there is no specific treatment for syndromic microphthalmia-12, which is caused by mutations in the RARB gene.

However, according to search result [6] and [7], there are some general management options available for individuals with this condition. Unfortunately, these options do not specifically target the underlying genetic cause of the syndrome.

Here are some possible management strategies that may be discussed with a healthcare professional:

• Genetic counseling: Understanding the genetic basis of the condition can help families make informed decisions about their reproductive choices.
• Multidisciplinary care: A team of specialists, including ophthalmologists, geneticists, and other medical professionals, may work together to provide comprehensive care for individuals with syndromic microphthalmia-12.
• Supportive care: Addressing the physical and emotional needs of individuals with this condition is crucial. This may include counseling, physical therapy, and other forms of supportive care.

It's essential to note that these management strategies are not specific treatments for the underlying genetic cause of the syndrome. Further research is needed to develop targeted therapies for

Based on the provided context, here are some differential diagnoses for syndromic microphthalmia:

• Cryptophthalmos: This is a rare congenital anomaly where the eyelids and eyeball are fused together. It can be associated with other systemic abnormalities [8][9].
• Cyclopia: This is a severe form of microphthalmia where the two eyes are fused together, forming a single eye-like structure. It is often associated with other craniofacial anomalies [5][8].
• Synophthalmia: This is a rare congenital anomaly where there is a partial or complete fusion of the two eyes, resulting in a single eyeball-like structure [5][8].
• Congenital cystic eye: This is a rare condition where a cyst forms in place of one or both eyes. It can be associated with other systemic abnormalities [5][9].

These differential diagnoses are important to consider when evaluating patients with syndromic microphthalmia, as they may require different management strategies and genetic counseling.

References: [5] by AS Verma · 2007 · Cited by 475 — Differential diagnoses include cryptophthalmos, cyclopia and synophthalmia, and congenital cystic eye. Patients are often managed within multi-disciplinary ... [8] by AS Verma · 2007 · Cited by 475 — Differential diagnoses include cryptophthalmos, cyclopia and synophthalmia, and congenital cystic eye. Patients are often managed within multi-... [9] Jun 11, 2015 — Anophthalmia and microphthalmia are challenging clinical entities, as they can be caused by mutations in big variety of genes.