syndromic microphthalmia 11

Syndromic microphthalmia, also known as microphthalmos, is a rare congenital anomaly characterized by the underdevelopment or smallness of one or both eyes. This condition can occur in isolation (nonsyndromic) or as part of a broader syndrome that affects other organs and tissues in the body.

There are several types of syndromic microphthalmia, each with its unique set of features and genetic causes. However, I couldn't find any specific information on "syndromic microphthalmia 11" in the provided search results.

But, according to the context [9], Microphthalmia, syndromic 12 is a rare genetic syndrome caused by mutations in the RARB gene. It is characterized by small eyeballs, lung underdevelopment, and diaphragmatic hernia. However, I couldn't find any information on "syndromic microphthalmia 11".

It's worth noting that the classification of syndromic microphthalmias can vary depending on the source and the specific genetic cause. If you have more context or clarification on what is meant by "syndromic microphthalmia 11", I'd be happy to try and provide a more accurate answer.

However, based on the information provided in the search results, here are some general characteristics of syndromic microphthalmia:

• It can occur in isolation (nonsyndromic) or as part of a broader syndrome that affects other organs and tissues.
• The condition is caused by mutations in genes related to embryonic craniofacial development.
• Syndromic microphthalmias account for 60-80% of all cases of microphthalmia [2].
• They are typically classified based on their genetic cause.

Please let me know if you have any further questions or clarification on what is meant by "syndromic microphthalmia 11".

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.

• Abnormal Eye Development: One or both eyes may be significantly smaller than normal (microphthalmia) or even absent (anophthalmia).
• Vision Loss or Blindness: People with syndromic microphthalmia may experience vision problems, including complete blindness.
• Other Systemic Issues: This condition can also cause abnormalities in other parts of the body, such as:
  • Abnormalities of the brain, heart, and genitourinary system [4]
  • Short stature
  • Abnormalities of the teeth, ears, fingers, and toes [6]
• Risk of Inheritance: There is a 50% risk that offspring may inherit the same condition, although the severity of signs and symptoms can vary widely [11]

It's essential to note that each individual with syndromic microphthalmia may experience a unique combination of these signs and symptoms. If you or someone you know has been diagnosed with this condition, it's crucial to work closely with a healthcare provider to manage symptoms and develop a personalized treatment plan.

References: [4] Context result 4 [6] Context result 6 [11] Context result 11

Diagnostic Tests for Syndromic Microphthalmia

Syndromic microphthalmia, a rare congenital disorder characterized by small or absent eyes, can be challenging to diagnose. However, various diagnostic tests can help identify the condition and underlying genetic causes.

• Genetic Testing: Genetic testing is recommended to identify the underlying genetic cause of syndromic microphthalmia. This may include chromosomal microarray analysis (CMA) and/or molecular genetic testing based on associated anomalies [12][14].
• Chromosomal Microarray Analysis (CMA): CMA is a diagnostic test that can detect copy number variations in the genome, which can help identify the underlying genetic cause of syndromic microphthalmia [10].
• Molecular Genetic Testing: Molecular genetic testing involves analyzing specific genes associated with syndromic microphthalmia. This may include testing for mutations in the BCOR gene, which is associated with Lenz microphthalmia syndrome [8][9].
• Imaging Studies: Imaging studies such as ultrasound and CT scans can help identify anophthalmia and microphthalmia during pregnancy or after birth [13][15].

Diagnostic Teams

A diagnostic team for syndromic microphthalmia may include:

• Geneticist
• Ophthalmologist
• Pediatrician
• Radiologist

These specialists work together to diagnose the condition, identify underlying genetic causes, and develop a treatment plan.

References: [8] Nov 30, 2022 — Lenz microphthalmia syndrome is caused by pathogenic variants, or changes, in the BCOR gene and is inherited in an X-linked pattern. [9] Jan 31, 2024 — A diagnosis of microphthalmia is given if the total AL is at least 2 standard deviations below normal, which usually means <19mm at 1 year of age. [10] Only syndromic microphthalmia will be discussed here, ... A supplementary deletion/duplication diagnostic test should be performed for genes with a known proportion of large genomic deletions. [12] Learn about diagnosis and specialist referrals for Microphthalmia, syndromic 12. Feedback National Center for Advancing Translational Sciences; ... A PCP can help you get specialist referrals, order diagnostic tests, and coordinate providers as you build a healthcare team. [13] Your doctor can diagnose these conditions during pregnancy or after your baby is born. During pregnancy, doctors can check for anophthalmia and microphthalmia with these tests: Ultrasound (a type of imaging to look at structures in the body) CT scan (a type of X-ray) [14] occurs because of a genetic syndrome, maternal infection, teratogenic exposure, or vitamin de ficiency. Diagnostic testing is recommended with CMA and/or molecular genetic testing based on associated anomalies. [15] Diagnosis. Anophthalmia and microphthalmia can either be diagnosed during pregnancy or after birth. During pregnancy, healthcare providers can identify anophthalmia and microphthalmia through an ultrasound or a CT scan (special x-ray test). After birth, a provider can identify anophthalmia and microphthalmia by examining the baby.

Syndromic Microphthalmia Differential Diagnoses

Syndromic microphthalmia, a rare congenital anomaly, can be challenging to diagnose due to its association with various non-ocular malformations. The differential diagnoses for syndromic microphthalmia include:

• Congenital cystic eye: A close differential diagnosis of microphthalmia with a cyst, both conditions may present with a clinically invisible globe.
• Anophthalmia: A condition where one or both eyeballs are completely absent.
• Cryptophthalmos: A rare congenital anomaly characterized by the absence or fusion of eyelids and eyelashes.
• Synophthalmia: A rare congenital anomaly characterized by the fusion of two eyes into a single eye-like structure.
• Congenital rubella syndrome: A condition caused by the rubella virus, which can lead to various birth defects, including microphthalmia.
• Fetal alcohol syndrome: A condition caused by prenatal exposure to alcohol, which can lead to various birth defects, including microphthalmia.

These differential diagnoses are essential for accurate diagnosis and management of syndromic microphthalmia. [11][12]

References:

[11] Syndromic microphthalmia is a class of rare congenital anomalies characterized by microphthalmia along with other non-ocular malformations. [12] Syndromic microphthalmias are caused by mutations in genes related to embryonic craniofacial development, and they are typically classified based on their genetic cause.