Mononen-Karnes-Senac syndrome

Mononen-Karnes-Senac syndrome is a rare genetic disorder characterized by skeletal dysplasia associated with finger malformations, variable mild short stature, and mild bowleg with overgrowth of the fibula.

Key Features:

• Skeletal dysplasia
• Finger malformations (brachydactyly) with:
  • Short and abducted thumbs
  • Short index fingers
  • Markedly short and abducted great toes
• Variable mild short stature
• Mild bowleg with overgrowth of the fibula

Prevalence: Mononen-Karnes-Senac syndrome has been described in a limited number of cases, including two males, their mothers, and a maternal aunt.

References:

• [1] Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers ...
• [9] Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers ...
• [11] Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers ...
• [15] Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula.

Mononen-Karnes-Senac syndrome is characterized by a combination of skeletal dysplasia and finger malformations, which are the primary signs and symptoms of this condition.

• Skeletal Dysplasia: The syndrome involves skeletal dysplasia, which affects the development of bones. This can lead to various abnormalities in bone structure and function.
• Finger Malformations: One of the hallmark features of Mononen-Karnes-Senac syndrome is brachydactyly, a condition characterized by short and abducted thumbs, short index fingers, and markedly short and abducted great toes [1][2][3].
• Variable Mild Short Stature: Individuals with this syndrome may also experience variable mild short stature, which can range from normal to slightly below average height [4][5].
• Mild Bowleg with Overgrowth of the Fibula: Another feature of Mononen-Karnes-Senac syndrome is mild bowleg, accompanied by overgrowth of the fibula, a long bone in the lower leg [6][7].

These signs and symptoms can vary in severity and may be present at birth or develop later in life. It's essential to note that this condition has been described in only a few cases, making it relatively rare.

References: [1] Description of Mononen-Karnes-Senac syndrome [2] Variable mild short stature and mild bowleg with proximal overgrowth of the fibula were also features. [3] The x-rays of the hands and feet showed short first metatarsals and phalanges. [4] Variable mild short stature and mild bowleg with proximal overgrowth of the fibula were also features. [5] The x-rays of the hands and feet showed short first metatarsals and phalanges. [6] Absent distal phalanges of index fingers and second toes · Symptom Information: · All diseases associated with this symptom: [7] Variable mild short stature and mild bowleg with proximal overgrowth of the fibula were also features.

Mononen-Karnes-Senac syndrome can be diagnosed through various diagnostic tests, which are essential for confirming the condition and ruling out other potential causes.

• Postnatal examination: A thorough postnatal examination is crucial in identifying the characteristic skeletal dysplasia associated with Mononen-Karnes-Senac syndrome. This includes a detailed radiographic examination of the fetus, especially of the pelvis, limbs, skull, and spine (8).
• Upper gastrointestinal series and barium enemas: In cases where congenital anomalies are suspected, diagnostic evaluations may include upper gastrointestinal series and barium enemas. These tests

Current Understanding of Drug Treatment for Mononen-Karnes-Senac Syndrome

Unfortunately, there is limited information available on the specific drug treatment for Mononen-Karnes-Senac syndrome. However, based on the search results provided, it appears that this condition is a rare genetic disorder characterized by skeletal dysplasia and finger malformations.

• No specific treatments mentioned: None of the search results mention any specific drugs or treatments that are commonly used to manage Mononen-Karnes-Senac syndrome.
• General information on rare diseases: Some of the search results provide general information on rare diseases, including the importance of early diagnosis and treatment. However, this is not specific to Mononen-Karnes-Senac syndrome.
• Focus on supportive care: It seems that the focus for individuals with Mononen-Karnes-Senac syndrome may be more on supportive care, such as physical therapy and occupational therapy, rather than specific drug treatments.

Recommendations

Given the limited information available, it is essential to consult with a healthcare professional who has experience in treating rare genetic disorders. They can provide personalized guidance on the best course of treatment for individuals with Mononen-Karnes-Senac syndrome.

• Consult a specialist: Individuals affected by this condition should seek consultation with a medical geneticist or a specialist in rare diseases.
• Explore supportive care options: Supportive care, such as physical therapy and occupational therapy, may be beneficial in managing the symptoms of Mononen-Karnes-Senac syndrome.

References

None of the search results provide specific information on drug treatment for Mononen-Karnes-Senac syndrome. However, the following general references may be useful:

• National Organization for Rare Disorders (NORD)
• Orphanet: an online rare disease and orphan drug data base

Please note that these references are not specific to Mononen-Karnes-Senac syndrome but provide general information on rare diseases.

Citations: [3][4][5][8]

Differential Diagnosis of Mononen-Karnes-Senac Syndrome

Mononen-Karnes-Senac syndrome is a rare genetic disorder characterized by skeletal dysplasia associated with finger malformations, variable mild short stature, and mild bowleg with overgrowth of the fibula. When considering differential diagnosis for this condition, several factors must be taken into account.

Possible Causes:

• Mononen-Karnes-Senac syndrome is a distinct entity, but its symptoms may overlap with other conditions.
• According to search result 3, Kenny-Caffey Syndrome Type 1 is another possible cause of similar symptoms.
• Other diseases associated with this symptom include Mononen-Karnes-Senac syndrome (Orphanet: [2][5][11][12][13]), as mentioned in search results 2, 5, 11, 12, and 13.

Challenges in Diagnosis:

• The rarity of Mononen-Karnes-Senac syndrome can make diagnosis challenging.
• As stated in search result 4, prevalence may be overestimated due to hospital data in regions with higher prevalence.
• A detailed history of symptoms such as fatigue, weight loss, fever, headache, dizziness, and malaise is crucial for differential diagnosis (search result 5).

Important Considerations:

• Systemic lupus erythematosus (SLE) is a chronic disease that can be fatal in some cases (search result 6).
• Neuronal degeneration due to conditions like Alzheimer's disease, multiple sclerosis, cerebral-vascular accidents (CVAs)/stroke, traumatic brain injury, and others should also be considered (search result 7).

Additional Resources:

• Orphanet has a summary about Mononen-Karnes-Senac syndrome that may include information on diagnosis, care, and treatment as well as other resources (search results 10, 11, 12, 13).
• GARD aims to help patients and caregivers find reliable resources and support for rare diseases like Mononen-Karnes-Senac syndrome (search result 15).