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3MC syndrome 3
ICD-10 Codes
Related ICD-10:
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
- Syndromic craniosynostosis
- acrofrontofacionasal dysostosis
- autosomal recessive Robinow syndrome
Additional Information
- owl#disjointWith
- http://purl.obolibrary.org/obo/DOID_0060576
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1592
- owl#annotatedSource
- t341313
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0060577
- oboInOwl#hasDbXref
- MIM:248340
- IAO_0000115
- A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24.
- relatedICD
- http://example.org/icd10/S06.317
- core#notation
- DOID:0060577
- rdf-schema#label
- 3MC syndrome 3
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_0060225
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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