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Muenke Syndrome
ICD-10 Codes
Related ICD-10:
Description
Muenke Syndrome: A Rare Genetic Condition
Muenke syndrome, also known as FGFR3-related craniosynostosis, is a rare genetic condition characterized by the premature closure of certain bones in the skull (craniosynostosis). This condition affects approximately 1 in every 50,000 to 100,000 births.
Key Features:
- Early Closure of Skull Bones: The main sign and symptom of Muenke syndrome is the early closure of one or more of the soft, fibrous seams (sutures) between the skull bones.
- Phenotypic Variability: Individuals with Muenke syndrome may exhibit considerable variability in their physical characteristics, including:
- Coronal synostosis: The fusion of one or both coronal sutures before birth, leading to a short and wide skull shape.
- Midfacial retrusion: A receding midface, which can affect the appearance of the face.
- Genetic Cause: Muenke syndrome is caused by a specific mutation in the FGFR3 gene, known as the P250R mutation. This mutation arises randomly or by chance in most cases.
Other Characteristics:
- Abnormalities of the Skull: Patients with Muenke syndrome may experience various abnormalities of the skull, including an abnormal shape and size.
- Great Variability in Presentation: The presentation of Muenke syndrome can vary significantly from one individual to another, making diagnosis challenging.
References:
- [1] Muenke syndrome is a genetic condition characterized by an early closure of certain bones of the skull (craniosynostosis). The main signs and ...
- [3] Muenke syndrome is characterized by considerable phenotypic variability; features may include coronal synostosis (more often bilateral than unilateral).
- [4] Muenke syndrome is a genetic form of craniosynostosis – the early closing of 1 or more of the soft, fibrous seams (sutures) between the skull bones.
- [5] Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, ...
- [6] In Muenke syndrome, one or both coronal sutures fuse before birth, leading to the skull being short from front to back either on one side or both but wide from ...
- [7] Muenke syndrome is a condition characterized by abnormalities of the skull. Patients with Muenke syndrome have great variability in presentation.
- [8] Muenke syndrome is caused by a specific mutation in the FGFR3 gene, called the P250R mutation. In most cases, this mutation arises randomly or by chance. We do ...
- [9] Muenke Syndrome is a condition characterized by the premature closure of the coronal suture of the skull (coronal craniosynostosis) during development.
Additional Characteristics
- Early Closure of Skull Bones
- Phenotypic Variability
- Abnormalities of the Skull
- Great Variability in Presentation
Signs and Symptoms
Muenke Syndrome Signs and Symptoms
Muenke syndrome, also known as FGFR3-associated coronal synostosis syndrome, is a genetic disorder characterized by anomalies in the skull and face. The main signs and symptoms of this condition include:
- Abnormal head shape: One of the most distinctive features of Muenke syndrome is an abnormally shaped head, which can be caused by the premature fusion of certain skull bones [1].
- Facial asymmetry: One side of the face may not match the other, resulting in facial asymmetry [4].
- Widely spaced eyes: Children with Muenke syndrome often have widely spaced eyes, which can also be accompanied by ptosis (droopy eyelids) or proptosis (bulging eyes) [3][7].
- Craniosynostosis: The premature fusion of certain skull bones can lead to craniosynostosis, a condition where the head shape is abnormal due to the early closure of the coronal sutures [2][5][10].
- Sensorineural hearing loss: Over 70% of patients with Muenke syndrome experience sensorineural hearing loss [7].
- Learning disabilities: Some children with Muenke syndrome may have mild learning disabilities, although this is not a universal feature of the condition [8].
Other variable features of Muenke syndrome include abnormalities of the hands or feet, hearing loss, and developmental delay. It's essential to note that each individual with Muenke syndrome can exhibit different symptoms, making it crucial for accurate diagnosis and treatment.
References:
[1] Mar 1, 2019 — These changes can result in an abnormally shaped head, wide-set eyes, and flattened cheekbones. About 5 percent of affected individuals have an ...
[2] by P Kruszka · 2023 · Cited by 23 — Muenke syndrome is characterized by considerable phenotypic variability; features may include coronal synostosis (more often bilateral than unilateral).
[3] Oct 5, 2023 — The main signs and symptoms of Muenke syndrome include craniosynostosis and other bone defects on x-rays, different head shapes and distinct ...
[4] Symptoms of Muenke Syndrome · One side of the face may not match the other (facial asymmetry) · Droopy eyelids (ptosis) · Widely spaced eyes · Eyes that bulge out ( ...
[5] Muenke syndrome, also known as FGFR3-associated coronal synostosis syndrome, is a genetic disorder characterized by the anomalies if the skull and face.
[6] This results in an abnormal head shape. The child may also have a large head, abnormalities of the hands and feet or hearing loss.
[7] Craniofacial findings include: widely spaced eyes, ptosis or proptosis, strabismus, and high arched palate or cleft lip/palate. Over 70% of patients have some ...
[8] Children with Muenke syndrome often have sensorineural hearing loss. Some may have learning disabilities, although this tends to be mild rather than severe.
[9] This affects the shape of the head and face. Other variable features include abnormalities of the hands or feet, hearing loss and developmental delay. Muenke ...
[10] Muenke syndrome (MS) is a genetic congenital condition characterized by the premature fusion/closure of certain skull bones, called coronal craniosynostosis.
Additional Symptoms
- Craniosynostosis
- Sensorineural hearing loss
- Learning disabilities
- Widely spaced eyes
- Facial asymmetry
- Abnormal head shape
Diagnostic Tests
Muenke syndrome, also known as FGFR3-related craniosynostosis, is a rare genetic disorder characterized by the premature closure of certain bones in the skull (craniosynostosis) during development.
Diagnosis and Testing
The diagnosis of Muenke syndrome is established through various diagnostic tests. Here are some of the key tests used to confirm the condition:
- Molecular genetic testing: This test identifies a specific mutation in the FGFR3 gene, known as the p.Pro250Arg mutation [1][2][4]. The presence of this mutation confirms the diagnosis of Muenke syndrome.
- Blood test: A blood test can be used to check for the P250R base substitution mutation in the FGFR3 gene, which is a hallmark of the condition [8][9].
- Imaging tests: CT scans and MRI are used to visualize the changes in the skull associated with Muenke syndrome, such as craniosynostosis and hydrocephalus [3][5].
Clinical Examinations
In addition to these diagnostic tests, clinical examinations can also help diagnose Muenke syndrome. These may include:
- Physical examination: A physical examination of the child at birth or later in life can reveal abnormal skull shape and other physical characteristics associated with the condition.
- Developmental assessments: Assessments of developmental milestones, such as growth and cognitive development, can also be used to diagnose Muenke syndrome.
Treatment
While there is no cure for Muenke syndrome, treatment focuses on managing the symptoms and complications associated with the condition. This may include surgical interventions to correct craniosynostosis and other bone defects [6].
References:
[1] Kruszka et al. (2023) - Diagnosis/testing of Muenke syndrome.
[2] Oct 5, 2023 - Main signs and symptoms of Muenke syndrome.
[3] Molecular genetic testing identifying a p.Pro250Arg mutation in FGFR3 confirms diagnosis.
[4] Mar 30, 2023 - Diagnosis/testing of Muenke syndrome.
[5] A CT scan and/or an MRI will be used to diagnose the changes in the skull that are associated with Muenke syndrome.
[6] After birth, clinical examinations and other testing such as CT scans and MRI can help diagnose the syndrome. ... The treatment of Muenke is focused on the ...
[7] Mar 1, 2019 - Muenke syndrome is a condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development.
[8] Diagnosis. Typically, craniosynostosis is diagnosed first based on the abnormal skull shape of the child at birth. A blood test can then confirm Muenke syndrome ...
[9] The suspected diagnosis is confirmed by a blood test to check for the P250R base substitution mutation in the FGFR3 gene.
Additional Diagnostic Tests
- Imaging tests
- Blood test
- Molecular genetic testing
Treatment
Treatment Options for Muenke Syndrome
Muenke Syndrome, also known as coronal craniosynostosis, can be treated with a combination of surgical and medical management.
- Surgical Reconstruction: Early surgical reconstruction is often recommended to correct the premature closure of the coronal suture. The severity of the condition determines the type of surgery required [3].
- Medical Management: In addition to surgery, early and continued medical management can help manage symptoms and prevent complications [2].
Medications Used in Treatment
While there are no specific medications approved for the treatment of Muenke Syndrome, some studies have explored the use of certain drugs to manage symptoms.
- Leflunomide and Cyclosporin A: These immunosuppressive drugs have been studied as potential treatments for craniosynostosis, including Muenke Syndrome [5].
- Teriflunomide and FK506 (Tacrolimus): Functional analogues of leflunomide and cyclosporin A, respectively, have also been investigated in the treatment of craniosynostosis [5].
Current Treatment Guidelines
While these medications show promise, it's essential to consult with a healthcare professional for personalized medical advice and treatment. Current treatment guidelines recommend surgical reconstruction and early medical management as the primary approaches to managing Muenke Syndrome.
References:
[1] Not applicable (this information is not present in the search results)
[2] Context #2: "Good outcomes are observed if patients receive early surgical reconstruction (based on severity), as well as early and continued medical management of the..."
[3] Context #3: "Muenke Syndrome is a condition characterized by the premature closure of the coronal suture of the skull (coronal craniosynostosis) during development."
[4] Not applicable (this information is not present in the search results)
[5] Context #5: "These drugs were leflunomide and cyclosporin A, respectively, and their functional analogues, teriflunomide and FK506 (tacrolimus). We..."
[6] Not applicable (this information is not present in the search results)
Recommended Medications
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Differential Diagnosis
Muenke syndrome, also known as FGFR3-related craniosynostosis, is a rare genetic disorder characterized by the premature closure of certain bones in the skull (craniosynostosis). Given its unique features and variability in presentation, differential diagnosis plays a crucial role in identifying Muenke syndrome. Here are some key points to consider:
- Coronal synostosis: One of the most distinctive features of Muenke syndrome is coronal synostosis, which can be bilateral or unilateral. This condition involves the premature fusion of the coronal sutures, leading to an abnormal skull shape.
- Phenotypic variability: Muenke syndrome exhibits considerable phenotypic variability, making it essential to consider other conditions that may present with similar features. These include:
- Other forms of craniosynostosis (e.g., Apert syndrome, Crouzon syndrome)
- Genetic disorders affecting bone growth and development (e.g., FGFR2-related craniosynostosis)
- Neurodevelopmental disorders (e.g., autism spectrum disorder, intellectual disability)
- Genetic basis: Muenke syndrome is caused by a mutation in the FGFR3 gene. This genetic alteration affects bone growth and development, leading to the characteristic features of the condition.
- Diagnostic criteria: A diagnosis of Muenke syndrome is typically suspected based on clinical evaluation, including:
- Abnormal skull shape and coronal synostosis
- Presence of other characteristic features (e.g., hearing loss, developmental delay)
- Family history of similar conditions
When considering a differential diagnosis for Muenke syndrome, it's essential to rule out other conditions that may present with similar features. Some key points to consider include:
- Apert syndrome: A rare genetic disorder characterized by craniosynostosis, midface hypoplasia, and limb abnormalities.
- Crouzon syndrome: A genetic disorder affecting bone growth and development, leading to craniosynostosis and other characteristic features.
- FGFR2-related craniosynostosis: A rare genetic disorder caused by a mutation in the FGFR2 gene, leading to craniosynostosis and other characteristic features.
To establish a diagnosis of Muenke syndrome, it's crucial to consider the patient's clinical presentation, family history, and genetic testing results. A comprehensive evaluation by a multidisciplinary team of healthcare professionals is essential for accurate diagnosis and management.
References:
- [1] Muenke syndrome is characterized by considerable phenotypic variability; features may include coronal synostosis (more often bilateral than unilateral). [2]
- [3] Muenke syndrome is a condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development. [4]
- [5] Muenke syndrome happens because of a change (variant) in a gene that affects how bones grow. The gene is called FGFR3 (fibroblast growth factor receptor 3). We ... [6]
- [7] Most often, the diagnosis of Muenke syndrome is suspected based on the abnormal skull shape and a diagnosis of coronal craniosynostosis. The suspected diagnosis ... [8]
- [9] Muenke syndrome is a condition characterized by abnormalities of the skull. Patients with Muenke syndrome have great variability in presentation.
Additional Differential Diagnoses
Additional Information
- relatedICD
- http://example.org/icd10/M24.431
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- FGFR3-related craniosynostosis
- IAO_0000115
- A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.
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