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Muenke Syndrome

ICD-10 Codes

Related ICD-10:

Q91.6 Q72.33 H33.192 E83.50 H35.733 Q14.2 S00.04 M92.11 Q96.4 M89.541 H80.03 Q71.22 Q71.23 H61.032 M86.242 M86.312 S53.131 M21.722 M89.59 H02.514 M61.175 M24.431 M89.362 M25.731 M61.512 Q01.0 M93.841 Q75.041 H02.422 Q91.2 Q93.9 H74.313 M61.472 H26.063 H80.0 H80.00 H35.50 Q91.4 M86.349 H16.053 M92.31 E34.322 M89.742 H74.322 M41.24 M99.63 Q82.9 M61.27 M89.519 M89.24 Q36.1 Q67.0 M20.0 S52.281 M61.19 M12.42 M99.62 Q72.01 M61.56 M86.361 M87.351 M89.42 M61.551 Q21.22 M89.232 Q31.1 M99.41 M89.166 M61.221 Q71.93 M61.529 M89.40 M24.251 E71.548 Q76.428 M61.141 M89.261 M53.0 G90.B H50.03 M61.50 Q76.8 M93.811 M89.364 Q66.10 M90.50 P91.829 M87.849 M89.722 M91.80 H05.322 M61.572 Q71.43 M86.16 Q70.00 M61.249 M11.23 H74.323 M89.532 H26.041 M61.561 H80.80 M89.28 Q16 M61.57 Q75.029 M61.532 Q82.4 S52.381 M87.337 M48.8X1 M92.291 S02.102 D58.1 M92.222 H02.151 M92.00 Q10.0 Q72.813 Q20.6 S60.442 E71.540 Q75.04 M84.85 R62.59 H80.13 Q22.0 M61.145 S33.121 H02.214 M61.452 M93.829 M86.17 M84.862 M26.07 M43.25 M72.4 M92.202 M23.06 Q71.50 M12.41 Q76.49 H91.03 M89.50 M21.764 M85.431 Q71.811 M89.8 M92.299 Q93.3 S23.153 L68.3 M41.03 M89.752 S14.115 M61.241 M84.632 M61.42 M87.863 D81.81 Q38.4 M61.151 M89.164 M62.419 M84.812 Q71.00 M47.23 Q92.9 S62.16 M87.032 M61.239 M91.81 Q71.42 S53.111 M94.8X8 S13.150 M24.622 M89.363 Q70 M61.29 H47.032 M61.559 M89.732 H05.352 M89.33 M89.334 H02.724 H17.00 Q79.1 D35.3 M25.774 M61.14 M61.52 M92.3 Q91 G11.5 M85.042 G71.22 M48.24 M86.341 M61.53 M85.432 M42.11 M26.51 Q72.50 H02.725 H93.219 M93.831 M93.949 M89.23 Q93.81 Q72.0 S22.23 M19.24 Q71.899 M89.551 Q71.12 Q12.1 Q75.05 Q90.1 E74.05 H93.3 H18.453 M61.229 Q95.2 M43.4 M87.862 G71.13 E72.8 Q72.61 M86.311 Q16.3 S43.222 E83.30 M24.15 M71.422 M89.331 M61.471 E72.50 M61.252 G40.843 Q34.8 M89.124 Q33.3 M89.169 M93.872 M85.39 M89.49 Z14 J34.3 Q81.2 R62.50 M89.042 M89.131 M61.51 Q18.0 M61.462 Q70.02 H80.11 M89.021 Q71.812 M60.121 Q71.60 Q75.08 M24.642 M89.34 M89.156 M89.249 M89.511 M89.20 M89.032 Q93.4 Q72.1 M86.362 M89.371 Q75.1 M61.259 Q04.0 M86.321 H50.411 M86.331 Q77.9 Q62.7 M90.511 H74.391 S02.11G M61.23 M92.599 Q92.1 Q72.63 M89.125 M89.762 M61.28 Q55.4 H05.321 H80.01 Q85 G93.44 M40.30 H21.273 M89.71 S24.153 M61.132 M89.212 Q71.893 M41.57 M89.38 M93.911 M61.251 M87.835 H47.293 M72.1 D48.111 M61.171 M89.529 H93.3X3 G50.8 H90.A11 H17.13 E71.53 H83.93 M14.631 M92.509 Q66.82 H26.033 H50.042 M87.311 Q31 R26.8 H02.862 M89.39 M92.21 M89.55 Q71.0 Q77.6 S52.28 M41.0 M95 S60.821 M90.51 M61.211 M84.84 M99.4 M86.322 M42.0 M61.242 Q75.4 Q70.03 M87.84 Q71.62 Q10.2 O35.11 Q67 G81.1 E72.59 M21.239 M26.06 M61.112 Q74 M89.262 M61.139 H80.1 M21.121 H35.3 M43.22 Q93 M94.8X6 M24.62 M24.621 M89.51 E71.310 E71.518 Q22.9 M61 O35.01 S23.142 G71.228 M41.30 H47.2 K00.4 Q75.022 M89.542 P96.3 M89.126 Q72.5 Q72.51 M89.12 Q91.7 E74.820 M84.9 M89.721 Q17.1 M86.379 M71.85 M85.0 E83.32 M92.2 Q33 H21.253 M86.22 Q72.13 M89.54 S23.171 K08.21 M89.719 M89.139 Q84 R90.8 M61.222 M89.769 P11 M49.85 S52.38 S52.382 Q72.12 Q75.9 H26.06 M89.521 M91.21 Q20 M61.571 H80.23 M89.729 Q30.9 Q75.01 H61.11 S43.112 M43.08 M89.167 M85.43 M61.131 Q71.53 H80.83 M89.15 M89.157 Q21.15 M89.18 M99.61 Q75.0 S23.14 E77.9 M61.26 M89.29 H18.53 M54.01 M25.78 M89.21 M85.011 Q61.19 M53.86 M89.151 Q71.5 G40.84 Q73 H50.42 Q12.4 E77.8 M25.331 M61.219 M61.45 M89.351 M86.532 P09 M89.342 H26.03 Q71 M87.35 Q66.80 M26.10 M61.24 M92.591 M93.939 G11.19 M89.0 M61.231 M94.8X M87.362 Q85.9 G51.32 M26.5 M14.64 M89.161 M20.022 M85.461 E71.5 M61.212 O26.872 S43.221 M89.022 M11.08 M41.114 M43.21 M93.212 Q30.3 Q77 M86.351 M11.04 Q60.4 Q71.41 M61.2 M61.21 Q56 S43.311 E20.810 D81.819 Q75.051 K00.1 M61.1 M92.503 Q43.3 S92.234 M61.411 M92.0 H90.A O43.121 H21.533 M89.01 M89.019 M89.22 M89.221 M24.5 M84.841 M61.10 H15.852 I66.03 G71.032 M85.622 Q06.8 G47.35 Q71.892 H05.323 H74.8 M89.311 M89.512 Q11.3 E70.328 M89.333 S13.121 E71.111 P71.8 L66.0 H47.033 M92.01 M53.88 M89.539 Q99 M47.898 Q71.8 H74.319 M85.81 M87.834 H80.02 Q25.72 Q20.0 Q83.8 M43.24 M89.349 H02.22C M24.612 H02.865 Q37.4 Q91.0 Q96.2 L67.8 M92.32 M24.674 M89.341 G11.3 R46.4 M92.513 S13.181 Q96.1 G71.2 M26.72 M86.3 E32.0 S53.121 M24.512 M61.59 S22.4 H02.726 M24.652 S43.2 M12.49 H50.17 S82.5 Q71.02 Q75.042 M24.121 H83.13 S52.25 M89.352 H05.411 M25.272 M61.429 G24.1 Q30.1 M92.521 M61.232 Q87.85 E71.54 M87.13 M93.91 M93.912 M89.77 M89.771 M61.13 Q11.1 G40.42 H61.813 M61.272 M85.47 M85.471 Q21.3 H47.031 Q78.3 M93.90 M61.522 M89.321 M62.4 M61.579 M61.58

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. [1] Muenke syndrome is a genetic condition characterized by an early closure of certain bones of the skull (craniosynostosis). The main signs and ...
  2. [3] Muenke syndrome is characterized by considerable phenotypic variability; features may include coronal synostosis (more often bilateral than unilateral).
  3. [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.
  4. [5] Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, ...
  5. [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 ...
  6. [7] Muenke syndrome is a condition characterized by abnormalities of the skull. Patients with Muenke syndrome have great variability in presentation.
  7. [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 ...
  8. [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)

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

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 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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IDO_0000664
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t341237
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DOID:0060703
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Muenke Syndrome
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