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3MC syndrome 3

ICD-10 Codes

Related ICD-10:

R77.2 H70.89 C96.29 Q74.3 E71.520 G12.25 Q77.2 Z16.24 M86.332 C4A.30 G90.59 R40.211 M86.8X0 Q07 E76.02 Q92.9 S62.302 Q04 C15.5 A24.2 D81.6 H34.13 B27.12 N02.3 B69.0 I97.790 T50.4X5 L51.1 M61.29 B38.4 M12.172 M62.261 E88.40 F44.5 S06.2X5 S06.347 M84.861 Q25.8 K08.23 Q81.1 G71.12 E75.242 H02.724 C72.40 E71.542 E71.312 C4A.22 T43.3X5 Q91.3 R79.83 L81.6 E74.8 E74.89 G70.2 G71.22 Q89.1 E44.1 E72.51 Q20.8 M86.341 I69.393 H71 H49.43 D81.32 E74.82 C93.1 Q91.1 Q93.81 Q12.8 Z28.81 I49.2 Z87.762 M86.329 C92.20 S06.897 E76.01 Q92.7 Q93.59 C54.2 F95.1 N02.B9 G37.1 Q71.12 E70.20 A31.1 D74.0 E76.29 M94.35 D48.115 H35.14 Z87.768 E71.12 E71.128 M47.01 R15.9 M86.8X1 Q75.03 N03.6 Q75.05 Q90.1 Q34 Q72.899 C4A.9 G11.4 G40.834 Q76.7 E76 S24.11 S34.0 N04.6 I69.83 M12.17 Q07.9 L89.43 Q91.7 E74.820 H66.3X O35.12 Q23.82 Q34.9 P07.23 E74.810 T45.51 C4A.8 Q89.09 M61.222 A50.41 E79.8 M86.622 Q63.8 G60.0 H26.06 N02.0 Q04.3 D59.32 I69.163 M86.46 D89.833 I66.03 G51.2 M87.079 P70 Q06.8 C79.51 N02.6 T56.2X G47.35 C04.9 H05.323 H44.2B2 M62.429 C16.0 P02.7 Q89.7 O36.823 O35.14 E71.313 E71.111 M05.422 G45.2 I63.011 D57.419 T38.3X Q43.7 C92.10 P76.0 Q03.8 A31 K50.011 H18.813 M50.82 E70.4 M11.22 Q05.3 T32.72 T51.1X4 L97.523 T32.44 M12.14 M12.15 H83.8 T84.623 A50.43 S06.37A E76.1 T32.60 Q91.0 T32.54 E88.41 F82 N03.3 E71.4 E71.40 M02.3 I69.21 P25.8 G11.3 M84.53 M86.319 I69.169 P28.42 H35.02 H71.21 K14.2 M12.141 Q52.6 A81.2 C67.5 C91.50 G90.5 H18.039 I69.992 Q68.0 C88.20 Q93.52 B46.1 M02.351 M61.25 I69.24 C83.1 I66.02 C4A M12.1 M12.11 M89.2 Q98.1 E75.2 E75.23 M02.34 Q07.01 G71.0341 E44.0 M12.171 M61.26 D61 O35.0 C81.39 C92.30 E74.1 E74.10 E88.A E32.8 E64.0 D82 Q40.2 R83 C92.3 E77.8 Q44 Q86.1 A26.7 G09 Q25.4 S14.113 H65.3 H71.2 C88.21 G31.85 H81.391 Q33.4 Q91.5 D89.42 M84.51 E74.19 E75.11 E71.2 E76.210 E76.211 G23 O03.32 C79.5 G90.529 H18.551 M89.0 C18 E88.3 H95.13 E76.21 Q93.2 K63.829 Q86.0 M62.5A C40 M96.A3 Q87.84 G24.2 K51.3 Q61.5 R70 V22.9 P93 M62.512 Q77 A44.8 M86.351 N18.3 H83.8X1 Q75.8 C92.2 H31.8 E80.3 Q25.49 E72.4 S13.140 G50.8 Q28.8 M86.339 S62.323 E88.43 G90.09 T80.218 E71.53 S14.111 E32.9 C81.22 M87.09 Q91.6 S06.6X2 G23.2 A39.51 E75.27 R39.198 M12.132 M89.541 E75.243 M86.562 S06.353 E88.49 M86.312 H02.514 A56.00 T43.654 E75.01 S06.317 I69.365 D47.1 Q45 C7A.01 C7A.010 M02.369 P83.0 M87.071 P35.1 Q72.21 Z87.732 E72 D89.831 Q87.89 H20.82 D70.3 D51 M86.551 S62.363 Q41.2 I69.31 Q82 H95.132 C4A.72 S62.312 C4A.39 G23.0 F06.1 H35.173 H53.469 M89.70 Q87.85 M12.152 M87.13 Q71.33 E71.311 E78.3 G40.42 Q03.0 D57.434 Q87.5 I69.215 C14.2 P70.9 N01.1 H30.81 H30.812 M62.4 E75.10 G60.3 G31.86 R78.7 G44.001 N27 C75.4 T43.635 M61.261 H02.721 C7A.026 H80.13 D57.453 N01.A D57.452 C88.3 C7A.00 S06.337 E80.6 C4A.59 M87.151 H30.11 G90.519 H30.12 I69.352 C92.12 E71.52 N18.31 Q87 Q23.8 S06.348 S14.112 S06.371 D81.818 S06.362 Z90.3 H35.422 S06.381 Q90.0 G46.7 Z85.81 G60.1 I49.5 M89.09 M61.241 Q02 Q23 E71.510 G37.81 T44.995 D81.81 M05.451 G40.844 D82.8 H83.2X3 E74.829 G43.E01 D57.431 G37.0 I82.0 C4A.7 I69.865 M62.461 A39.53 H05.41 Q91.2 T37.0X5 D82.0 C81.20 D57.43 D82.1 C93.12 P09.3 H35.141 H16.413 I69.392 H26.063 Q91.4 S62.353 H44.533 A81.82 G40.81 I69.265 T32.51 C4A.12 P70.0 N02.7 A43.0 C7A.024 M02.311 C79.72 E72.19 M46.27 M94.359 M86.34 N02.5 E74.04 H30.811 Q06.9 Q61.02 C25.0 C47.8 M61.221 C4A.51 E71.548 E83.0 G90.B N07.5 M26.02 D81.7 Q41.1 M21.25 H05.322 T43.014 H70.12 P27.1 C4A.121 I69.212 M86.30 A19.1 T32.22 H35.149 A31.2 C92.21 M31.3 S92.333 Q34.1 Q30.8 T84.63 E71.110 F44.2 G37.2 Q77.7 T32.80 Q33.8 P70.2 S06.332 Q55.69 G89.21 E83.09 I51.81 E74.01 G71.3 H70.891 I13.2 H95.03 M41.04 E72.52 M89.79 S06.357 H49.81 Q64.5 M87.81 Q25 Q93.1 G37.4 T48.205 C4A.112 Q92.0 E78.72 G61.81 N13.732 D47.Z2 E71.521 I63.311 M02.371 M12.16 M87.0 S06.38A D84.1 E71.120 C96.2 H18.55 E88.42 M62.459 S06.311 G04.31 G37.89 G60.2 E75.28 N04.2 S34.12 G95.81 E20.81 E79 G46.0 E72.03 M86.342 N99.51 O35.15 O41.143 E76.22 H95.11 Q77.6 P27.0 E75.26 G71.02 C38 G90.511 M61.211 P91.823 Q06.3 E75.09 G40.814 M12.19 P91.5 F84.2 G12.9 M86.32 M86.322 Q24 Q15 Q75.4 E70.89 I67.5 Q92.8 T17.900 G31.81 H90.A32 E80.5 Q16.4 Q93.51 T51.1X3 C81.2 C81.27 E75.240 H83 Q22.8 H44.2D H44.2D2 E72.59 H35.723 Q55.29 C96.5 M05.541 P02.70 T85.0 Q87.83 S06.821 E72.12 N02.A Q71.3 H95.111 K76.2 E71.41 Z79.633 M12.131 H74.8X E71.310 E71.518 M05.21 P74.42 E74.31 G71.13 E70.8 Z85.821 R94.01 T17.990 R40.235 M86.311 I63.34 C22.9 E75.00 P93.0 P91.822 C71.5 M86.10 D81.5 Q87.3 E71.522 Q87.86 M12.162 M86.462 O70.21 M12.111 C4A.62 Q71.891 B57.32 D64.0 E74.9 H80.11 M12.18 H35.373 C4A.20 D72.81 I87.013 Q75.08 M94.351 N01.6 Q42.2 R94.13 S06.385 G90.1 Q64.39 Q93.4 P76.2 Q72.1 M02.359 M67.99 M86.362 C96.20 Q66.2 Q85.81 M86.321 E75.4 D89.82 S06.374 M31.2 Q28.3 B46.4 M61.271 M86.331 Q32.1 G21.0 E79.2 S62.393 T32.96 G12.29 E76.8 L97.123 E83.49 T37.1X5 H95.131 Q92.1 N01.5 Q32.0 E71.314 R94.138 C21.2 S62.303 T40.3X5 I69.151 A51.44 M86.13 Y83.1 E75.25 H18.552 A50.07 E71.0 S24.153 M86.31 E71.541 G71.11 G13.1 R84.7 Q41.0 H90.72 M86.39 I97.190 E71.39 I69.813 C81.29

Description

What is 3MC Syndrome 3?

3MC Syndrome 3, also known as Carnevale-Mingarelli-Malpuech-Syndrome (CMMMS), is a rare autosomal recessive disorder that affects various tissues and organs in the body. It is one of four disorders that were previously designated separately but are now collectively referred to as 3MC Syndrome.

Characteristics of 3MC Syndrome 3

The distinctive facial features of 3MC Syndrome 3 include:

  • Unusual facial morphology [5]
  • Cleft lip and/or palate [2]
  • Craniosynostosis, which is a condition where the bones of the skull fuse together prematurely [2]

In addition to these physical characteristics, individuals with 3MC Syndrome 3 may also experience:

  • Learning disability or intellectual disability [6]
  • Genital abnormalities
  • Limb anomalies

Other Features

Systemic features are highly variable in their presence and severity. Some common features include:

  • Facial clefting
  • Growth deficiency
  • Cognitive impairment
  • Hearing loss [9]

It's worth noting that the exact symptoms and severity of 3MC Syndrome 3 can vary significantly from one individual to another.

References

[1] - Not applicable (this is not a reference, but rather an introduction) [2] - A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, ... [3] - 3MC syndrome encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, ... [4] - 3MC syndrome encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes. [5] - 3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs. The distinctive facial features of ... [6] - A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and ... [7] - Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene. Synonyms. 3MC syndrome 3; 3MC syndrome caused by mutation in COLEC10; 3MC ... [8] - The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, ... [9] - Systemic features are highly variable in their presence and severity. Facial clefting, growth deficiency, cognitive impairment, and hearing loss are present ...

Additional Characteristics

  • hearing loss
  • cognitive impairment
  • growth deficiency
  • autosomal recessive disorder
  • genital abnormalities
  • craniosynostosis
  • 3MC Syndrome 3
  • Carnevale-Mingarelli-Malpuech-Syndrome (CMMMS)
  • facial morphology
  • or palate
  • learning disability
  • limb anomalies

Signs and Symptoms

Common Features of 3MC Syndrome

Three M syndrome, also known as Baller-Gerold syndrome, is an extremely rare genetic disorder characterized by several distinct features.

  • Low birth weight: Individuals with 3MC syndrome often have low birth weight, which can be a sign of the condition.
  • Short stature (dwarfism): People with this syndrome typically experience slow growth and short stature after birth.
  • Characteristic abnormalities of the head and face: The syndrome is characterized by specific facial features, including:
    • Hypertelorism (increased distance between the eyes)
    • Blepharophimosis (eyelid abnormality)
    • Blepharoptosis (drooping eyelids)
    • Highly arched eyebrows

These physical characteristics are often present at birth and can be a key indicator of 3MC syndrome.

Additional Symptoms

In addition to the common features mentioned above, individuals with 3MC syndrome may also experience:

  • Anterior chamber defects: Abnormalities in the front part of the eye
  • Cardiac anomalies: Heart defects or abnormalities
  • Caudal appendage: A rare congenital anomaly where a small piece of tissue is attached to the lower back
  • Umbilical hernia/omphalocele: A birth defect where the intestines or other organs protrude through the navel

These symptoms can vary in severity and may not be present in every individual with 3MC syndrome.

References

  • [3] Three M syndrome is an extremely rare genetic disorder characterized by low birth weight, short stature (dwarfism), characteristic abnormalities of the head and face.
  • [9] Common features include hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows, cleft lip/palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases.

Additional Symptoms

  • Hypertelorism
  • Blepharophimosis
  • Cardiac anomalies
  • Blepharoptosis
  • Highly arched eyebrows
  • Anterior chamber defects
  • Caudal appendage
  • omphalocele
  • low birth weight
  • short stature

Diagnostic Tests

Diagnostic Testing for 3MC Syndrome 3

Diagnosing 3MC Syndrome 3, also known as Malpuech syndrome, typically involves a combination of physical examination, medical history, and genetic testing.

  • Physical Exam: A thorough physical exam is essential to identify the characteristic facial features and other abnormalities associated with 3MC Syndrome 3 [1].
  • Medical History: Taking a detailed medical history from the patient or their family members can provide valuable information about the presence of similar conditions in relatives, which may suggest a genetic basis for the condition [2].
  • Genetic Testing: Genetic testing is crucial to confirm the presence of mutations in the COLEC10 gene, which is associated with 3MC Syndrome 3. This type of testing can inform prognosis and clinical management [8].

In addition to these diagnostic tests, targeted mutation analysis, mutation scanning/screening, and sequence analysis of selected exons may also be performed to identify specific genetic mutations related to 3MC Syndrome 3 [4].

It's worth noting that the diagnosis of 3MC Syndrome 3 is often made in newborns presenting with craniosynostosis, cleft lip and/or palate, and typical facial dysmorphism [1]. However, a definitive diagnosis can only be confirmed through genetic testing.

References: [1] - Context result 1 [2] - Context result 9 [4] - Context result 4 [8] - Context result 8

Additional Diagnostic Tests

  • Physical Exam
  • Medical History
  • Genetic Testing
  • screening
  • Targeted mutation analysis
  • Sequence analysis of selected exons

Treatment

Treatment Options for 3MC Syndrome

While there are no specific drug treatments mentioned in the search results, we can infer some information about the treatment options available for 3MC syndrome.

  • Surgical Repair: Early surgical repair is provided for certain symptoms associated with 3MC syndrome (Search Result 1). This suggests that surgery may be a viable option for treating some aspects of the condition.
  • No Effective General Treatment: Unfortunately, there is no effective general treatment reported for 3MC syndrome (Search Result 12). This implies that treatment options are likely to be tailored to individual cases and may not be universally applicable.

Current Research and Future Directions

Research on 3MC syndrome is ongoing, with studies exploring the genetic basis of the condition and potential therapeutic strategies. For example, a review article discusses complement in disease pathogenesis and future pharmacological strategies for treating complement-related diseases (Search Results 3 and 6). While this research may not directly address drug treatment options for 3MC syndrome, it highlights the ongoing efforts to understand the underlying mechanisms of the condition.

Consultation with Healthcare Professionals

It is essential to consult with healthcare professionals for medical advice and treatment. They can provide personalized guidance based on individual circumstances and help determine the most effective course of action (Search Result 15).

In summary, while there are no specific drug treatments mentioned in the search results, surgical repair may be an option for certain symptoms associated with 3MC syndrome. However, there is no effective general treatment reported, and treatment options should be tailored to individual cases. Ongoing research may lead to new therapeutic strategies, but consultation with healthcare professionals remains essential.

References:

  • Search Result 1: Early surgical repair is provided for certain symptoms associated with 3MC syndrome.
  • Search Result 12: No effective general treatment has been reported for 3MC syndrome.
  • Search Results 3 and 6: Research on complement in disease pathogenesis and future pharmacological strategies.

Recommended Medications

  • Surgical Repair
  • No Effective General Treatment

💊 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

Differential Diagnosis of 3MC Syndrome

3MC syndrome, also known as Three M syndrome, has a complex differential diagnosis that includes several other genetic disorders. Some of the conditions that should be considered in the differential diagnosis of 3MC syndrome are:

  • Syndromic craniosynostosis: Conditions such as Crouzon disease can present with similar symptoms to 3MC syndrome.
  • Acrofrontofacionasal dysostosis 2 (AFCND2): This is a rare genetic disorder that can cause facial abnormalities and short stature, similar to 3MC syndrome.
  • Autosomal recessive Robinow syndrome: This condition can also present with short stature, cleft lip and palate, and other features similar to 3MC syndrome.

According to [8], 3MC syndrome should be considered as part of the differential diagnosis when fetal ultrasound detects facial clefts and spinal defects. Additionally, [9] suggests that the results of this query resulted in the following differential diagnosis: 3MC syndrome, acrofrontofacionasal dysostosis 2, autosomal recessive Robinow syndrome.

It's essential to note that a comprehensive evaluation by a medical professional is necessary to accurately diagnose and differentiate between these conditions.

Additional Differential Diagnoses

Additional Information

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