Stromme syndrome

Stromme Syndrome: A Rare Genetic Condition

Stromme syndrome, also known as Apple Peel Syndrome, is a very rare genetic condition that affects multiple bodily systems. It is characterized by anomalies in the intestines, eyes, and skull.

• Intestinal Anomalies: The most common intestinal anomaly associated with Stromme syndrome is apple peel intestinal atresia, where part of the intestine is missing or twisted around its main artery.
• Eye Abnormalities: Individuals with Stromme syndrome often have underdeveloped front thirds of their eyes and may experience variable ocular abnormalities.
• Microcephaly: This condition is also associated with microcephaly, a condition where the head is smaller than usual.
• Other System Involvement: In some cases, other systems such as the kidneys and heart may be affected.

Stromme syndrome is an autosomal recessive congenital disorder, meaning that it is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

The symptoms and severity of Stromme syndrome can vary widely among affected individuals. In some cases, the condition may be lethal in early life, while others may experience normal development with only mild symptoms.

References:

• [1] Strømme syndrome is a very rare autosomal recessive genetic condition characterised by intestinal atresia (in which part of the intestine is missing), eye abnormalities and microcephaly. [2]
• Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. [5][15]

Stromme Syndrome Signs and Symptoms

Stromme syndrome, also known as Strømme syndrome, is a rare genetic disorder characterized by several distinct signs and symptoms.

• Intestinal atresia: This is one of the most common symptoms of Stromme syndrome, where there is a blockage or absence of part of the intestine. [1]
• Ocular anomalies: Individuals with Stromme syndrome often have eye abnormalities, which can range from mild to severe. [2]
• Cranial anomalies: Microcephaly (small head size) and other cranial abnormalities are also common in people with Stromme syndrome. [3]

Additionally, some individuals may experience:

• Low-set ears
• Cleft palate
• Wide mouth
• Wide nasal bridge
• Extra fingers or toes near the affected limb

It's essential to note that each individual with Stromme syndrome may exhibit a unique combination of these symptoms. A proper diagnosis can only be made by a qualified medical professional through a comprehensive evaluation and genetic testing.

References: [1] - Context result 2 [2] - Context result 3 [3] - Context result 5

Diagnostic Tests for Stromme Syndrome

Stromme syndrome can be diagnosed through various diagnostic tests, which are essential in confirming the presence of this rare genetic disorder.

• Genetic Testing: Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel) and comprehensive genomic testing [7]. This type of testing can provide full confirmation of the presence of Stromme syndrome.
• Chorionic Villous Sampling or Preimplantation Genetic Testing: Early prenatal diagnosis by chorionic villous sampling or preimplantation genetic testing using targeted molecular testing of the familial pathogenic variants can also be used to diagnose Stromme syndrome [8].
• Diagnostic Imaging: Diagnostic imaging will make a contribution to diagnosis and is often used in conjunction with clinical grounds alone [6].

Specialist Referrals

A diagnostic team for Stromme syndrome may include:

• Gastroenterology
• Genetics
• Neurology
• Ophthalmology

These specialists can help diagnose and manage the various symptoms associated with Stromme syndrome.

Recommended Evaluations Following Initial Diagnosis

Following initial diagnosis, it is recommended to evaluate the following systems/concerns:

• Gastrointestinal/Feeding: Assess need for feeding tubes or other interventions.
• MOI (Multidisciplinary Ophthalmic Investigation): Evaluate eye abnormalities and implications of Stromme syndrome.
• Family support & resources: Assess need for community or online resources such as Parent to Parent.

These evaluations can help facilitate medical and personal decision-making for individuals with Stromme syndrome.

Treatment Options for Stromme Syndrome

Stromme syndrome, also known as intestinal atresia, is a rare congenital disorder that affects the development of the intestines. While there is no cure for this condition, various treatment options are available to manage its symptoms and improve quality of life.

• Surgery: According to search result [4], surgery is necessary for treating intestinal atresia, which is a common feature of Stromme syndrome.
• Anti-seizure medications: In some cases, anti-seizure medications may be prescribed to help prevent or control seizures associated with Stromme syndrome (search result [8]).
• Monitoring and evaluation: Regular monitoring and evaluation are essential for managing the various symptoms and complications associated with Stromme syndrome. This includes yearly eye and hearing evaluations, as well as assessments for cardiac, dental, and renal abnormalities (search result [10]).

It's essential to note that treatment plans for Stromme syndrome should be tailored to individual needs and may involve a multidisciplinary approach. Consultation with a healthcare professional is crucial for developing an effective treatment plan.

References: [4] Dec 4, 2020 — Surgery is necessary for treating intestinal atresia. [8] Anti-seizure medications to help prevent, reduce or control seizures. [10] Management generally involves monitoring of growth and feeding, yearly eye and hearing evaluations, and evaluation for cardiac, dental, and renal abnormalities.

Differential Diagnosis of Strømme Syndrome

Strømme syndrome, a rare autosomal recessive genetic condition, presents with distinct clinical features, including intestinal atresia, ocular anomalies, and microcephaly. When considering differential diagnoses for this condition, several other conditions should be taken into account.

• Intestinal Atresia: Conditions that involve intestinal atresia, such as:
  • Duodenal atresia [1]: A congenital defect where the duodenum is partially or completely blocked.
  • Jejunal atresia [2]: A condition where the jejunum is partially or completely blocked.
• Ocular Anomalies: Conditions that involve ocular anomalies, such as:
  • Microphthalmia [3]: A congenital defect where one eye is significantly smaller than normal.
  • Coloboma [4]: A condition where there is a hole in the iris or retina.
• Microcephaly: Conditions that involve microcephaly, such as:
  • Primordial dwarfism [5]: A rare genetic disorder characterized by severe growth failure and microcephaly.

These conditions can present with similar clinical features to Strømme syndrome, making differential diagnosis crucial for accurate diagnosis and treatment.