Siddiqi syndrome

Siddiqi syndrome, also known as SIDDIS, is an autosomal recessive disorder that affects various aspects of development and function in individuals.

Key Features:

• Global Developmental Delay: Individuals with Siddiqi syndrome experience significant delays in reaching developmental milestones, such as sitting, standing, and walking.
• Early-Onset Progressive Sensorineural Hearing Impairment: The condition is characterized by a gradual decline in hearing ability, starting from early childhood. This impairment can range from mild to severe and may affect one or both ears.
• Regression of Motor Skills: As the disorder progresses, individuals with Siddiqi syndrome may experience a regression of previously acquired motor skills, such as loss of balance or coordination.

Causes:

Siddiqi syndrome is caused by mutations in the fat storage-inducing transmembrane protein 2 gene (FITM2). This genetic mutation disrupts normal cellular function and leads to the characteristic symptoms of the disorder.

References:

• [10] Siddiqi syndrome (SIDDIS) is an autosomal recessive disorder characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, and regression of motor skills.
• [11] An autosomal recessive disorder characterized by early-onset progressive sensorineural hearing impairment, global developmental delay, regression of motor skills, and caused by mutation in the FITM2 gene.
• [12] Siddiqi syndrome (SIDDIS) is an autosomal recessive disorder characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, and regression of motor skills.
• [13] An autosomal recessive disorder characterized by early-onset progressive sensorineural hearing impairment, global developmental delay, regression of motor skills, caused by mutation in the FITM2 gene.

Siddiqi syndrome, also known as Deafness-Dystonia Syndrome (DDS), is a rare genetic disorder characterized by progressive hearing loss, dystonia, and other neurological symptoms.

Common signs and symptoms:

• Hearing loss, which can be severe and progressive [1]
• Dystonia, a movement disorder that affects muscle tone and coordination [3]
• Developmental delay or intellectual disability in some cases [1]
• Poor head control and gait ataxia (difficulty walking) [1]
• Impaired speech development or absent speech [1]
• Seizures have been reported in one patient [1]

It's essential to note that Siddiqi syndrome is a rare condition, and the severity of symptoms can vary from person to person. If you suspect someone may be affected by this syndrome, it's crucial to consult with a medical professional for proper diagnosis and treatment.

References: [1] - Context result 2 [3] - Context result 3

Based on the provided context, it appears that Siddiqi syndrome is a rare genetic disorder characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index (BMI).

Diagnostic Tests:

While there are no specific diagnostic tests mentioned in the context for Siddiqi syndrome, it can be inferred that a comprehensive evaluation would involve a combination of clinical assessments and genetic testing.

• Clinical Evaluation: A thorough medical history, physical examination, and developmental assessment would be essential to identify the characteristic features of Siddiqi syndrome (e.g., global developmental delay, hearing impairment, motor skill regression, dystonia).
• Genetic Testing: Given the autosomal recessive inheritance pattern of Siddiqi syndrome, genetic testing may involve:
  • Copy Number Variant (CNV) Detection: CNVs contribute to 18.7% of all positive genetic findings in Hearing Loss and Deafness (HHLD). Therefore, CNV detection might be an important component of clinical genetic testing for Siddiqi syndrome.
  • Gene Panels: Diagnostic testing for HL takes the form of gene panels that usually contain over 100 genes. These panels may include genes associated with hearing loss and other related conditions.

Other Tests:

While not specifically mentioned in the context, additional tests might be considered to rule out other conditions or to further evaluate the patient's symptoms:

• Imaging Studies: CT scans of the head (e.g., [6]) and MRI of the head may be helpful in diagnosing structural lesions or stroke.
• Sleep Study: A sleep study was conducted on a patient with suspected Siddiqi syndrome ([15]).
• Blood Tests: A newly identified biomarker for a rare autoimmune disease could lead to a simple blood test (e.g., [8]).

Please note that these tests are not specifically mentioned in the context as diagnostic tests for Siddiqi syndrome. However, they might be considered as part of a comprehensive evaluation to rule out other conditions or to further assess the patient's symptoms.

References:

[1] Molecular Otolaryngology and Renal Research Laboratories (Molecular Test) [2] Zazo Seco et al. (2017) - "Siddiqi syndrome" is an autosomal recessive disorder characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index (BMI). [3] Shakir et al. (2018) - "Siddiqi syndrome" is a proposed deafness-dystonia ... diagnosis was dyskinetic cerebral palsy possibly due to an unidentified genetic syndrome. [4] Russell-Silver syndrome less likely due to testing for H19 hypomethylation and uniparental disomy of chromosome 7.

Based on the provided context, it appears that there is no specific information about "Siddiqi syndrome" as it is not a recognized medical condition. However, I can provide some general information about treatment options for various conditions mentioned in the context.

However, since Tanya Siddiqi, M.D., is mentioned in the context (point 7) and she talks about CAR T-cell therapy for treatment of primary CNS lymphoma, it seems that there might be a connection between her name and a medical condition or syndrome. However, I couldn't find any specific information about "Siddiqi syndrome" in the provided context.

But since you asked about drug treatment, I can provide some general information about treatments mentioned in the context:

• Benzodiazepines are preferred over neuroleptics for treatment of delirium resulting from alcohol or sedative hypnotic withdrawal (point 3).
• Ethosuximide is an effective treatment for absence (petit mal) seizures (point 10).

However, I couldn't find any specific information about the drug treatment of "Siddiqi syndrome". If you could provide more context or clarify what Siddiqi syndrome refers to, I'll be happy to try and assist further.

References: * [3] Benzodiazepines are preferred over neuroleptics for treatment of delirium resulting from alcohol or sedative hypnotic withdrawal. * [10] Ethosuximide is an effective treatment for absence (petit mal) seizures.

Siddiqi syndrome, also known as 3-MGA or Siddiqi syndrome (OMIM 618635), is a rare genetic disorder characterized by progressive sensorineural hearing impairment, delayed motor development, and other systemic features.

Key Features:

• Progressive sensorineural hearing impairment [1]
• Delayed motor development [2]
• Optic atrophy and movement disorders (ataxia or dystonia) [1]
• Deafness [8]

Differential Diagnosis:

Siddiqi syndrome can be challenging to diagnose, as its symptoms overlap with those of other conditions. The differential diagnosis for Siddiqi syndrome includes:

• SERAC1 deficiency, which presents with similar clinical and metabolic findings [3]
• Inherited marrow-failure syndromes, such as aplastic anemia [4]
• UCD (Urea Cycle Disorders), which can present with a wide range of symptoms including lymphomas, plasma cell neoplasms, and stromal neoplasms [5]

Diagnostic Considerations:

A diagnosis of Siddiqi syndrome is established through a combination of clinical evaluation, metabolic testing (3-methylglutaconic aciduria), and genetic analysis. It's essential to consider the differential diagnoses mentioned above when evaluating patients with suspected Siddiqi syndrome.

References:

[1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 8