3MC syndrome

Characteristics of 3MC Syndrome

3MC syndrome, also known as Carnevale-Mingarelli syndrome, is a rare genetic disorder characterized by unusual facial features and problems affecting other tissues and organs.

• Facial Features: The distinctive facial features of 3MC syndrome include hypertelorism (increased distance between the eyes), blepharophimosis (drooping eyelids), blepharoptosis (eyelid drooping), and highly arched eyebrows [1, 6, 8].
• Other Tissues and Organs: The disorder also affects other tissues and organs, including craniosynostosis (premature fusion of the bones in the skull), learning disability, and genital, limb, and other developmental anomalies [5, 9].

Key Features

• Autosomal recessive inheritance pattern
• Rare multiple congenital anomalies syndrome
• Spectrum of developmental anomalies, including cleft lip and/or palate, craniosynostosis, and others [2]
• Facial dysmorphism, craniosynostosis, learning disability, and genital, limb, and other developmental anomalies [5, 9]

References

[1] Jul 1, 2018 - 3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs. [2] A rare multiple congenital anomalies syndrome characterized by a spectrum of developmental anomalies including cleft lip and/or palate, craniosynostosis, ... [3] 3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs. [4] 3MC syndrome is a disorder characterized by unusual facial features and problems affecting other tissues and organs. The distinctive facial features of ... [5] A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, ... [6] The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are ... [7] 3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, [8] The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are ... [9] A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and ...

Common Features of 3MC Syndrome

Three M syndrome, also known as blepharophimosis, craniosynostosis, and epicanthus inversus syndrome (BCES), is a rare genetic disorder characterized by several distinct physical features. Some of the common signs and symptoms of 3MC syndrome include:

• Facial Dysmorphism: Hypertelorism (increased distance between the eyes), blepharophimosis (drooping eyelids), blepharoptosis (eyelid drooping), and highly arched eyebrows are commonly observed in individuals with 3MC syndrome [1][2].
• Cleft Lip and Palate: Cleft lip and palate, which is a cleft in the bones and tissues of the face, including a cleft lip and palate, are also consistent findings in 40 to 68% of cases [7].
• Postnatal Growth Deficiency: Individuals with 3MC syndrome often experience slow growth after birth, leading to short stature (dwarfism) [1][3].
• Cognitive Impairment: Cognitive impairment is a common feature of 3MC syndrome, affecting individuals in various ways [7].
• Hearing Loss: Hearing loss is also a consistent finding in individuals with 3MC syndrome, occurring in some cases [1][7].

Additional Symptoms

Other features that may be present in individuals with 3MC syndrome include:

• Anterior Chamber Defects: Abnormalities of the anterior chamber of the eye
• Cardiac Anomalies: Heart defects or abnormalities
• Caudal Appendage: A small, tail-like structure at the base of the spine
• Umbilical Hernia/Omphalocele: A birth defect where the intestines or other organs protrude through the navel
• Diastasis Recti: A separation of the abdominal muscles

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

Diagnostic Tests for 3MC Syndrome

3MC syndrome, also known as Malpuech syndrome, is a rare genetic disorder that can be diagnosed through various diagnostic tests.

• Targeted mutation analysis: This test involves analyzing the MASP1 gene to identify any mutations or variations associated with the condition [4].
• Mutation scanning/screening and sequence analysis of selected exons: This test helps to detect any mutations in the MASP1 gene, which can confirm the diagnosis of 3MC syndrome [4].
• Sequence analysis: This test involves analyzing the DNA sequence of the MASP1 gene to identify any mutations or variations associated with the condition [4].
• Genetic testing: Genetic testing is recommended to identify a potential genetic basis for a condition and inform prognosis and clinical management [8].

These diagnostic tests can help confirm the diagnosis of 3MC syndrome, which is essential for providing appropriate medical care and management.

References:

[4] - Targeted mutation analysis, mutation scanning/screening and sequence analysis of selected exons, and sequence analysis are all diagnostic tests that can be used to diagnose 3MC syndrome. [8] - Genetic testing is recommended to identify a potential genetic basis for a condition and inform prognosis and clinical management.

Treatment Options for 3MC Syndrome

3MC syndrome, also known as Carnevale, Mingarelli, Malpuech, and Michels syndromes, is a rare autosomal recessive disorder characterized by unusual facial features and problems affecting other tissues and organs. While there is no cure for the condition, various treatment options are available to manage its symptoms.

Supportive Care

The primary goal of supportive care is to alleviate the symptoms and improve the quality of life for individuals with 3MC syndrome. This may include:

• Nutritional support: Ensuring adequate nutrition to prevent malnutrition and related complications.
• Physical therapy: To maintain mobility, flexibility, and strength.
• Occupational therapy: To develop skills for daily living and independence.

Pharmacological Treatment

Medications may be prescribed to address specific symptoms or complications associated with 3MC syndrome. These can include:

• Pain management: To alleviate pain and discomfort caused by joint or muscle problems.
• Antibiotics: To treat infections, such as respiratory tract infections.
• Vitamins and supplements: To prevent deficiencies and promote overall health.

Surgery

In some cases, surgery may be necessary to correct physical abnormalities or address complications. This can include:

• Orthopedic surgery: To repair or replace joints or bones affected by the condition.
• Dental surgery: To address dental problems, such as cleft palate or teeth misalignment.
• Plastic surgery: To improve facial appearance and alleviate related symptoms.

Rehabilitation

Rehabilitation programs can help individuals with 3MC syndrome develop skills for daily living, maintain mobility, and manage their condition effectively. This may include:

• Physical therapy: To maintain strength, flexibility, and range of motion.
• Occupational therapy: To develop skills for daily living and independence.
• Cognitive therapy: To address cognitive impairments or related behavioral issues.

References

• [4] The treatment of Three M syndrome is directed toward the specific symptoms that are apparent in each individual. This may include supportive care, pharmacological treatment, surgery, and rehabilitation.
• [9] Nocturnal mouthpiece ventilation and medical hypnosis to treat severe obstructive sleep apnea in a patient with 3MC syndrome.
• [13] Diagnosis of 3-Methylcrotonyl-CoA carboxylase deficiency is characterized by increased 3-hydroxyisovaleric acid and 3-methylcrotonylglycine levels in the urine.

Differential Diagnosis of 3MC Syndrome

3MC syndrome, also known as Malpuech-Michels-Mingarelli-Carnevale syndrome, is a rare genetic disorder characterized by unusual facial features and problems affecting other tissues and organs. When diagnosing 3