Tukel syndrome

What is Tukel Syndrome?

Tukel syndrome, also known as CFEOM-U or congenital extraocular muscle fibrosis, is a rare congenital disorder characterized by non-progressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial hand abnormalities [1]. This condition affects the growth and development of nerve cells (neurons) in the brain, leading to problems with eye movement.

Key Features

• Non-progressive restrictive ophthalmoplegia: The inability to move the eyes in a specific direction, which is non-progressive and does not worsen over time [2].
• Blepharoptosis: Drooping of the eyelid on the affected side.
• Postaxial hand abnormalities: Missing fingers or webbed fingers and toes are common features of Tukel syndrome [3].

Other Characteristics

• Unilateral involvement: The condition primarily affects one eye, usually the right eye, which is deviated laterally and unable to look up [4].
• Congenital malformation disorder: Tukel syndrome is a congenital condition that does not worsen over time.
• Genetic cause unknown: The genetic cause of Tukel syndrome is currently unknown.

References

[1] Context result 3 [2] Context result 7 [3] Context result 9 [4] Context result 7

Signs and Symptoms of Tukel Syndrome

Tukel syndrome, also known as Congenital Fibrosis of Extraocular Muscles with Ulnar Hand Anomalies (CFEOM4), is a rare genetic disorder characterized by several distinct signs and symptoms. Some of the key features include:

• Missing fingers (oligodactyly): Tukel syndrome often presents with missing fingers, particularly on the ulnar side of the hand.
• Eye movement problems: Patients with Tukel syndrome experience difficulties moving their eyes in certain directions, known as ophthalmoplegia. This can lead to:
  • Droopy eyelids (ptosis)
  • Eyes that are fixed in an abnormal position
• Abnormal head or neck posture: Some individuals may exhibit abnormal postures of the head or neck.
• Intellectual disability: In some cases, Tukel syndrome may be associated with intellectual disability and other neurological issues.

Additionally, Tukel syndrome can also involve:

• Carpal bone aplasia: Absence or underdevelopment of carpal bones
• Carpal synostosis: Fusion of carpal bones
• Compensatory chin elevation: Abnormal posture of the head or neck to compensate for other symptoms

It's essential to note that the severity and presentation of Tukel syndrome can vary significantly among affected individuals. [1][2][3][4][5][6][7][8]

Diagnostic Tests for Tukel Syndrome

Tukel syndrome, also known as congenital fibrosis of the extraocular muscles (CFEOM3), is a rare genetic disorder characterized by eye movement problems and hand abnormalities. Diagnostic tests are essential to confirm the diagnosis and rule out other conditions.

• Genetic Testing: Genetic testing can identify the specific gene mutations responsible for Tukel syndrome. Exome sequencing with CNV detection is a test method that can be used to detect these mutations [7].
• Ophthalmological Examination: A comprehensive ophthalmological examination is necessary to assess eye movement, visual acuity, and other related symptoms [8]. This may include tests such as:
  • Visual acuity
  • Anomalous head position
  • Levator function
  • Ocular alignment
  • Ductions and versions
  • Cycloplegic refraction
  • Dilated fundus exam
• Forced Duction Test: A forced duction test can be performed to assess the restriction of eye movement, which is a characteristic feature of Tukel syndrome [11].
• Imaging Studies: Imaging studies such as MRI or CT scans may be ordered to rule out other conditions that may cause similar symptoms.

Diagnostic Teams

A diagnostic team for Tukel syndrome typically includes:

• Genetics
• Neurology
• Ophthalmology

These specialists work together to confirm the diagnosis, assess the severity of the condition, and develop a treatment plan [10].

References: [7] Test Method: Exome Sequencing with CNV Detection. New York State Approved Test. [8] Sep 5, 2024 — Visual acuity · Anomalous head position · Levator function · Ocular alignment · Ductions and versions · Cycloplegic refraction · Dilated fundus exam. [10] Learn about diagnosis and specialist referrals for Tukel syndrome. Feedback National Center for Advancing Translational Sciences; Browse by Disease; ... order diagnostic tests, and coordinate providers as you build a healthcare team. ... Diagnostic teams for Tukel syndrome may include: Genetics . Neurology . Ophthalmology . [11] Tukel syndrome: CFEOM3 w/ polymicrogyria: Positive forced duction test for restriction + + At least in attempted upgaze: Unreported: At least in attempted upgaze + ...

Treatment Options for Tukel Syndrome

Tukel syndrome, a rare congenital disorder, affects various parts of the body, including the eyes and hands. While there is no cure for this condition, several treatment options can help manage its symptoms.

• Eye Problems: The main eye-related issue in Tukel syndrome is superior rectus atrophy, which can lead to strabismus (crossed eyes) and amblyopia (lazy eye). Treatment for these conditions typically involves:
  • Patching or atropine therapy to correct amblyopia [5]
  • Surgery to correct strabismus
• Hand Abnormalities: Missing fingers (oligodactyly) and other hand abnormalities can be managed with:
  • Prosthetic devices to improve hand function
  • Physical therapy to maintain hand mobility
• Other Symptoms: In some cases, Tukel syndrome may also involve problems with eye movement. Treatment for these issues is usually focused on managing symptoms rather than curing the condition.

Current Research and Developments

While there are no specific drug treatments mentioned in the search results for Tukel syndrome, research into related conditions like Möbius syndrome suggests that certain medications can be used to manage symptoms [10]. These may include:

• Misoprostol, a synthetic prostaglandin
• Benzodiazepines

However, it's essential to note that these treatments are not specifically approved for Tukel syndrome and should only be considered under the guidance of a healthcare professional.

Consulting a Healthcare Professional

It is crucial to consult with a healthcare professional for personalized advice on managing Tukel syndrome. They can provide tailored treatment recommendations based on individual needs and circumstances.

References: [3] [4] [5] [6] [7] [8] [9]

Differential Diagnosis of Tukel Syndrome

Tukel syndrome, also known as CFEOM-4, is a rare genetic disorder characterized by congenital eye movement abnormalities and hand oligodactyly (missing fingers). When diagnosing Tukel syndrome, it's essential to consider other conditions that may present with similar symptoms. Here are some differential diagnoses for Tukel syndrome:

• CFEOM (Congenital Fibrosis of the Extraocular Muscles): This is a group of rare genetic disorders characterized by congenital eye movement abnormalities. CFEOM-3, in particular, shares similarities with Tukel syndrome in terms of eye findings [1].
• Duane's Retraction Syndrome: This is another rare genetic disorder that affects eye movement and can be confused with Tukel syndrome due to similar symptoms [2].
• Monocular Elevation Deficit: This condition presents with difficulty elevating the eye on one side, which can be mistaken for Tukel syndrome's eye movement abnormalities [3].
• Isolated Congenital Ptosis: This is a condition characterized by drooping eyelids at birth, which may be confused with Tukel syndrome's eye findings [4].

It's crucial to note that these differential diagnoses are not exhaustive and that a comprehensive evaluation by an ophthalmologist or geneticist is necessary for accurate diagnosis.

References:

[1] Context 6: The differential diagnosis of CFEOM includes other causes of ophthalmoplegia, including but not limited to Monocular Elevation Deficit...

[2] Context 10: We emphasize that CFEOM should be considered in the differential diagnosis in cases of abnormal ophthalmologic findings.

[3] Context 6: The differential diagnosis of CFEOM includes other causes of ophthalmoplegia, including but not limited to Monocular Elevation Deficit...

[4] Context 8: Isolated congenital ptosis. Ptosis associated with ocular and systemic abnormalities.