4 free views remaining today
3MC syndrome 1
ICD-10 Codes
Related ICD-10:
Description
What is 3MC Syndrome 1?
3MC Syndrome 1, also known as 3MC Syndrome due to mutations in the MASP1 gene, is a rare autosomal recessive disorder that affects various aspects of an individual's health. The condition is characterized by a range of symptoms and features.
Facial Dysmorphism
One of the primary features of 3MC Syndrome 1 is facial dysmorphism, which includes:
- Hypertelorism: An abnormal increase in the distance between the eyes
- Blepharophimosis: A condition where the eyelids are abnormally small
Additional Characteristics
- Hypertelorism
- Blepharophimosis
Signs and Symptoms
Common Features of 3MC Syndrome
Three M syndrome, also known as Carnevale Malpuech Majewski syndrome, is a rare genetic disorder characterized by several distinct signs and symptoms.
- Developmental Delay: Children with 3MC syndrome often experience developmental delay, which can manifest as slow growth after birth, delayed speech and language development, and impaired cognitive function [1].
- Intellectual Disability: Many individuals with 3MC syndrome have intellectual disability, ranging from mild to severe [1].
- Hearing Loss: Hearing loss is a common feature of 3MC syndrome, affecting up to 68% of cases [7].
- Slow Growth: Individuals with 3MC syndrome often experience slow growth after birth, which can lead to short stature (dwarfism) [3].
Facial Dysmorphism
Individuals with 3MC syndrome often exhibit characteristic facial dysmorphism, including:
- Hypertelorism: An abnormal increase in the distance between the eyes
- Blepharophimosis: A condition where the eyelids are abnormally small or closed
- Blepharoptosis: Drooping of the eyelids
- High Arched Eyebrows: A distinctive feature of 3MC syndrome [2, 8]
Other Symptoms
Additional symptoms associated with 3MC syndrome include:
- Cleft Lip and Palate: A cleft in the bones and tissues of the face, including a cleft lip and palate
- Craniosynostosis: Premature closure of the sutures in the skull
- Epicanthus Inversus: A fold of skin at the inner corner of the eye [5]
- Anterior Chamber Defects: Abnormalities in the front part of the eye
- Cardiac Anomalies: Abnormalities in the heart and blood vessels
- Caudal Appendage: A rare congenital anomaly where a small, usually fatty, mass is present at the base of the spine [6]
These symptoms can vary in severity and may not be present in every individual with 3MC syndrome.
Additional Symptoms
- Craniosynostosis
- Hypertelorism
- Blepharophimosis
- Hearing Loss
- Intellectual Disability
- Developmental Delay
- Cleft Lip and Palate
- Anterior Chamber Defects
- Cardiac Anomalies
- Caudal Appendage
- Blepharoptosis
- Slow Growth
- High Arched Eyebrows
- Epicanthus Inversus
Diagnostic Tests
Diagnostic Tests for 3MC Syndrome Type 1
The diagnostic tests for 3MC syndrome type 1 typically involve a combination of physical examination, medical history, and genetic testing.
- Physical Exam: A thorough physical exam is conducted to identify characteristic features such as facial dysmorphism, low birth weight, short stature, and other malformations [4].
- Medical History: A detailed medical history is taken to understand the patient's symptoms, family history, and any previous diagnoses [9].
- Genetic Testing: Genetic testing can confirm the presence of mutations in the COLEC10 gene, which is associated with 3MC syndrome type 1 [9]. This test can be performed through various methods such as targeted mutation analysis, mutation scanning/screening, and sequence analysis of selected exons [5].
It's worth noting that diagnostic testing for 3MC syndrome type 1 may also involve other specialized tests, such as advanced imaging techniques, to confirm the diagnosis.
References:
[4] - In most cases, Three M syndrome is diagnosed shortly after birth, based upon a thorough clinical evaluation, identification of characteristic physical findings (e.g., low birth weight, short stature, characteristic craniofacial and skeletal malformations, etc.), and/or a variety of specialized tests, such as advanced imaging techniques. [5] - Diagnosis of 3MC Syndrome (MASP1 gene) · Targeted mutation analysis · Mutation scanning/screening and sequence analysis of selected exons · Sequence analysis: [9] - Diagnosis of 3MC syndrome type 1 typically involves a physical exam, medical history, and genetic testing. Genetic testing can confirm the presence of mutations in the COLEC10 gene, which is associated with 3MC syndrome type 1 [9].
Additional Diagnostic Tests
- Physical Exam
- Medical History
- Genetic Testing
Treatment
The treatment of 3MC syndrome, also known as Three M syndrome, is directed toward the specific symptoms that are apparent in each individual.
- Multidisciplinary approach: The treatment may require the coordinated efforts of a team of specialists, including pediatricians, physicians who specialize in treating skeletal disorders (orthopedists), dental specialists, and/or other healthcare professionals [4].
- Supportive care: Treatment includes supportive care to manage symptoms such as widely spaced eyes, narrowing of the eye opening, droopy eyelids, highly arched eyebrows, and an opening in the upper lip with an opening in the roof of the mouth (cleft palate) [3].
- Pharmacological treatment: While there is no specific medication for 3MC syndrome, pharmacological treatment may be used to manage related symptoms or complications.
- Surgery: Surgery may be necessary to correct physical abnormalities, such as cleft palate repair or orthopedic procedures to address skeletal issues.
- Rehabilitation: Rehabilitation services may also be necessary to help individuals with 3MC syndrome adapt to their condition and improve their quality of life.
It's essential to note that the treatment plan for each individual with 3MC syndrome will vary depending on the specific symptoms and needs. A healthcare professional should be consulted for personalized advice and care [4].
Recommended Medications
- Surgery
- Pharmacological 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
Three M syndrome (3MC syndrome) is a rare genetic disorder characterized by various physical and developmental abnormalities. When diagnosing 3MC syndrome, it's essential to consider other conditions that may present similar symptoms. Here are some differential diagnoses for 3MC syndrome:
- Syndromic Craniosynostosis: Conditions like Crouzon disease can exhibit similar facial abnormalities and short stature [5].
- Fetal Ultrasound Abnormalities: Facial clefts, spinal defects, and other congenital anomalies may be indicative of 3MC syndrome. However, a thorough evaluation is necessary to rule out other conditions [7][8].
- COLEC10-related Disorders: Individuals with short stature, radioulnar synostosis, cleft lip and palate, or other characteristic features should consider COLEC10-related 3MC syndrome in their differential diagnosis [4][9].
Key Features to Consider
When differentiating 3MC syndrome from other conditions, the following features are crucial:
- Short Stature: A common feature of 3MC syndrome, which may also be present in other genetic disorders.
- Facial Abnormalities: Cleft lip and palate, facial clefts, or other characteristic facial features can help identify 3MC syndrome.
- Developmental Delay: Intellectual disability, hearing loss, and slow growth after birth are common features of 3MC syndrome.
References
[1] Jul 1, 2018 - Other common features of 3MC syndrome include developmental delay, intellectual disability, hearing loss, and slow growth after birth resulting in short stature. [4] by R Rabin · 2022 · Cited by 1 — COLEC10-related 3MC syndrome should be considered in the differential diagnosis for individuals with short stature, radioulnar synostosis, cleft lip and palate, ... [5] Three M syndrome is an extremely rare genetic disorder characterized by low birth weight, short stature (dwarfism), characteristic abnormalities of the head and face. [7] by C Lawson · 2020 · Cited by 4 — 3MC syndrome should be considered as part of the differential diagnosis when fetal ultrasound detects facial clefts and spinal defects, as ... [9] by R Rabin · 2022 · Cited by 1 — COLEC10-related 3MC syndrome should be considered in the differential diagnosis for individuals with short stature, radioulnar synostosis, cleft lip and palate, ...
Additional Differential Diagnoses
- 3MC syndrome 2
- Syndromic Craniosynostosis
- Fetal Ultrasound Abnormalities
- COLEC10-related Disorders
Additional Information
- relatedICD
- http://example.org/icd10/P70.8
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1590
- owl#annotatedSource
- t341402
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#id
- DOID:0060575
- oboInOwl#hasDbXref
- MIM:257920
- IAO_0000115
- A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27.
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- core#notation
- DOID:0060575
- rdf-schema#label
- 3MC syndrome 1
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_0060225
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.