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3MC syndrome 2

ICD-10 Codes

Related ICD-10:

M62.449 M99.31 Q75.01 Z87.76 H71.21 K14.2 Q52.6 H15.043 M86.651 N03.7 Q68.0 C88.20 Q93.52 A81.0 G60.8 I97.810 I69.243 M12.46 C83.1 C93.11 I69.333 Q21.15 Q79 T56.891 C4A F32.A I69.318 M04.2 M12.1 M12.11 M89.18 G12.2 M99.30 T53.2 E75.2 M86.569 E77 E77.9 Q72 D81.31 G37.3 H50.612 I69.26 M12.171 M61.26 C92.30 D72 D72.8 E74.10 M89.522 P91.8 S34.11 I69.369 Q63 D43.1 E06.2 N07.0 H35.0 E77.8 Q44 G61.0 M90.5 N99.521 C41 H44.412 M47.014 M61.219 M86.532 Q25.4 C88.21 G80.3 Q91.5 Z15 L20.81 E70.40 G93.43 H26.03 M46.91 Z87.75 E75.1 E75.11 E77.0 G72.81 S14.12 M60.179 M61.24 E76.210 M30.3 G72 H18.551 H70.11 M61.231 S06.37 C69.02 I63.51 Q26 Q76.413 E76.21 G51.3 K08.26 R40.224 M62.452 Q75.052 S06.337 E80.6 M86.50 M86.512 C4A.4 C4A.59 M87.072 Q72.91 H30.11 M05.452 R83.5 S62.342 Q23.9 C86.5 C92.12 E71.52 H83.8X2 S14.112 G90.8 S06.371 H59.03 C4A.0 M86.38 D81.818 H35.42 Q90.0 G44.04 G60.1 E71.44 M89.752 S14.115 M61.241 C92.22 E71.510 E72.21 G37.81 Z79.631 D81.81 R77.2 M99.42 A50.53 E71.520 E76.03 S24.114 K50.813 D57.02 C71 M86.332 M86.662 S14.146 C4A.30 H80.10 I69.342 H30.123 E70.33 E70.330 E76.02 Q50.6 S62.302 A24.2 N01.3 E34.3 C81.43 G93.3 M87.05 M87.059 D61.09 G54.1 I65.29 M61.29 B38.4 M12.13 F44.5 M62.479 M89.761 M87.874 K08.23 Q92.6 I63.413 Q81.1 G71.12 Q16.9 M61.49 Q27 E75.242 H02.724 G93.8 Q87.19 E71.542 O08.3 G12.1 E71.312 M89.57 Q75.058 A08.1 I63.342 Y75.2 I69.928 M86.132 T37.8X3 Q32.0 E71.314 S62.303 D72.89 T86.85 Q55.4 E76.9 M06.1 H80.01 M54.03 M89.259 Y83.1 Q75.5 E75.25 M99.05 M89.71 A50.07 Q78.6 E71.0 M47.012 M86.371 Q04.9 G40.11 S24.153 M86.31 P09.1 C83.17 I69.161 O01.0 Q41.0 M86.522 I69.213 H10.513 O30.893 H70.892 M86.39 M61.251 S06.339 M62.251 I69.813 C69.3 E72.4 B38.89 H05.10 D81.0 M86.339 T32.76 H17.13 P01.2 T81.83 S14.111 Q72.52 H05.342 C81.22 M04.8 H54.62 I63.432 M87.09 Q91.6 G82.51 G23.2 Q14.0 I69.165 I69.398 E75.27 I69.323 M12.121 M86.562 C4A.10 T32.20 E88.49 A31.0 M86.312 Q23.88 H02.514 E75.01 P70.8 S06.317 G40.814 H35.379 M47.013 M92.62 E71.19 M12.19 M84.84 F84.2 M86.32 M86.322 P02.78 I69.312 Q45.3 G31 M12.10 C48.0 C92.11 G31.81 E80.5 M61.262 Q16.4 C81.2 G70.81 M07.69 Q28 T32.30 T43.655 H35.723 E70 T85.0 Q87.83 A50.40 Q74.8 M89.262 S11.25 T86.3 G23.3 N02.A H80.1 K76.2 H21.223 E71.41 A39.81 Q71.1 D46.B P07.22 E71.310 E71.518 Q22.9 Q72.89 R62 I69.332 M61 Q67.8 C4A.9 G71.228 D81.4 H47 S24.11 Q75.022 E74 N04.6 N01.0 E75.3 Q37.5 C70.0 D46.A L89.43 E74.820 E16 G40.811 M62.47 M86.379 G80.1 O35.12 G32.81 Q10.7 P07.23 H95.0 H95.02 M12.119 I82.29 S06.377 C79.49 Q72.13 C4A.8 H35.17 Q06 C7A.019 G05 R71 C96.0 C20 E80.7 I69.092 M61.222 Z22.341 A50.41 D47.0 D80.0 O35.3 C92.A0 T32.33 Q14.3 P71.0 Q72.12 S92.33 H26.06 M60.19 H49.03 M05.45 Q20.4 N02.0 Q04.3 E27.4 M02.362 C4A.2 D59.32 H53.133 Q87.82 M62.23 M86.461 E83.59 G51.2 G71.032 H90.1 H90.12 H90.A21 I45.1 S24.15 Q06.8 M86.11 N80.3B3 D86.82 G43.60 H70.093 C16.0 Q89.7 Q11.3 E70.29 E78.70 M61.46 Q93.0 E71.313 O35.07 H31.121 T38.3X5 E71.111 R62.7 G45.2 G52.1 G64 D61.02 T38.3X D57.451 Q43.7 Q44.7 A50.49 Q99 Q99.8 M71.45 G71.033 H59.033 P76.0 Q87.11 D89.4 H80.02 T51.1X4 L51.3 M89.75 C93.3 M12.14 M87.22 T85.695 H49.4 M12.15 M99.45 G93.42 H83.8 T32.90 S14.153 F84.0 B56.0 T83.24 E00.2 G57.73 Q79.4 G81.92 M02.37 Q37.4 T32.60 C69.30 Q91.0 E71.4 E71.40 C71.7 E64 I65.1 P25.8 D75.89 M86.8X5 Q93.2 F44.6 K90.8 E71.528 H82.1 M61.212 N03.2 Q75 C69.31 E70.49 N07.6 P09.2 Q87.84 C93.10 Q61.5 Q79.62 C86.3 M87.022 N46.11 E75.29 P93 C70 T81.4 H83.8X1 M86.53 C92.2 G37.4 M61.2 M61.21 C4A.112 Q92.0 C81.42 D81.3 D81.819 E78.72 G61.81 N13.732 S13.15 E71.521 I63.311 M62.8 M12.16 M86.521 A50.54 E75.19 Q85.82 D84.1 E71.120 C96.2 H18.55 H73.12 M41.52 M62.222 Q10.6 E75.21 S06.31 E85.1 G37.89 D56.5 E75.28 I69.011 M87.311 P36.1 F80.8 M00.24 N06.7 Q43.9 M33.29 Q66.21 Q64.12 A19.9 E72.03 H71.3 M86.342 O35.15 C79.32 D57.4 E76.22 H30.819 M89.55 Q77.6 R94.3 A39.1 C70.1 P27.0 E75.26 C38 H74.393 I82.B M62.5A2 O77.0 D72.0 G90.511 H18.553 M61.211 P91.823 D81.810 E75.09 F99 C78.3 E72.8 S24.0 O35.05 Q16.3 M05.432 N01.9 E75.00 P93.0 G61.9 H02.722 E72.50 M61.252 P91.822 D46.1 D46.C G93.39 D81.5 M87.142 S24.113 I69.353 H47.629 G40.843 M86.09 Q87.86 Z16.342 C7A.011 G71.21 G12.24 M12.111 C25.7 H90.6 T84.613 M34.1 H68.103 G71.9 B57.32 T32.70 E74.9 M12.18 D74.8 M05.29 G90.513 Q32.2 K80.45 K50.818 B46.8 C4A.20 E72.22 M49.87 E83.1 I69.361 M86.56 Q64.79 D81.1 M89.511 C72.41 S06.385 G31.89 G90.1 C4A.3 T71.152 Q93.4 E72.29 M86.362 C96.20 Q75.1 M86.35 Q04.0 M62.259 M86.321 H30.813 H44.2A3 Q80.4 D80.2 N03.1 Q23.3 M86.611 M94 Z85.848 H66.23 I82.543 M31.2 B46.4 M61.271 M86.331 M86.531 G21.0 S06.324 H90.A31 N18.30 R94.09 E79.2 M62.3 K95.81 E76.8 M61.23 J84.843 M90.55 C50.919 C4A.22 Q91.3 P50.0 G11.5 L81.6 E74.89 G71.22 I69.065 T50.4 E72.51 Q20.8 M86.341 O35.1 Q04.6 Q20.9 H49.43 H57.00 D81.32 E74.82 H21.243 M86.119 C93.1 Q93.81 Q12.8 Q72.0 E72.89 Z87.762 M86.329 O70.2 C92.20 M94.20 D71 E76.0 E76.01 N04.20 Q93.59 C54.2 F95.1 E83.39 C7B.1 D80 R84.4 G37.1 E70.2 M96.0 I66.23 E76.29 M94.35 H59.031 I69.810 Z87.768 E71.128 B43.8 L97.825 R15.9 Q75.03 Q75.05 D46.22 S06.316 E74.05 H93.3 D60.0 E74.829 C66.2 Q50.3 I27.1 H95.01 I69.865 O35.10 Q91.2 Q04.8 Q93.9 A96.8 M11.2 B38.7 C81.20 L89.42 D82.1 C93.12 K08.25 Q07.8 H26.063 N02.2 Q91.4 G25.4 A74.8 O45.012 H80.12 A81.82 Q16.5 S06.2X6 Q82.9 M61.27 Q55.62 R41.4 I42.1 I69.844 E72.3 H68.109 C4A.12 L41.3 I65.22 Y83.2 M86.542 O35.2 Q72.81 S14.0 M86.361 I63.112 C79.72 E72.19 I69.211 G37 M94.3 N02.5 E74.04 H31.123 E71.448 H53.412 H35.729 I99.8 C47.8 M61.221 C4A.51 G90.523 M86.33 Q00.1 M04 K50.819 H35.731 M53.0 C4A.21 E83.0 G90.B N07.5 C7A.025 K50.811 D81.7 L89.41 S34.02 E72.09 I63.031 C81.21 M43.28 I69.86 C38.1 M63.85 G46.5 T82.531 Z13.7 T36.2X5 G37.5 I63.31 J96.2 A81.00 A19.1 E71.1 I77.89 T32.22 I34.0 I69.852 F50.82 G40.83 D57.432 Q16 D55.1 M31.3 M05.462 T74.92 C83.18 E71.110 S06.370 H71.01 S14.114 G37.2 Q77.7 G70.9 S06.325 N01.7 H18.559 G71.038 I51.81 I66.9 E74.01 G71.3 I63.419 E71.540 G96.89 M02.39 E72.52 M43.3 M89.79 E83.00 S06.357 H49.81 E74.31 E70.8 Q92.62 Z85.821 G31.82 E46 R46.4 H44.2D3 G71.2 I66.13 M86.3 M86.37 D57.433 E32.0 H21.1 Q87.8 A96.1 C74.1 P71 R39.19 C81.45 M87.261 P83.0 E72 H66.2 G23.9 M89.562 Q87.89 M86.551 T32.10 S06.386 M93.85 C56 N00.5 I25.85 M86.352 E75.0 G97 G98 C4A.72 T85.731 C4A.39 I87.031 G23.0 C71.6 M86.669 Q66.81 F06.1 M87.838 H35.173 P57.0 M87.841 C75.2 M12.152 C86.1 I69.854 M89.771 E71.311 H10.0 C69.4 T51.1 C30.1 E78.3 G40.42 Q38 G81.01 I69.344 N03.5 C4A.5 M02.36 M02.361 N02.1 Z86.14 D57.434 C90 Q63.9 Q87.5 K80.40 D26.0 P70.9 Q77.8 H30.81 H30.812 M62 C81.2A Q75.04 C75.4 M61.261 H80.13 D57.453 G45.1 M31.9 M50.03 D57.459 H02.512 L81.7 E71.440 N01.A B46 H93.293 M86.69 M86.51 M86.511 Z85.230 C79.61

Description

What is 3MC Syndrome 2?

3MC Syndrome 2, also known as Carnevale-Mingarelli-Malpuech-Michels Syndrome 2, is a rare autosomal recessive disorder that is part of the broader category of 3MC syndromes. This condition is characterized by a range of developmental anomalies and distinctive facial features.

Key Features:

  • Facial Dysmorphism: The main feature of 3MC Syndrome 2 is facial dysmorphism, which includes:
    • Hypertelorism (widely spaced eyes)
    • Blepharophimosis (narrowing of the eye opening)
    • Blepharoptosis (droopy eyelids)
    • Highly arched eyebrows
  • Other Tissue and Organ Problems: In addition to facial features, 3MC Syndrome 2 can also affect other tissues and organs, including:
    • Craniosynostosis (premature closure of the skull bones)
    • Learning disability
    • Genital abnormalities
    • Limb anomalies
    • Vesicorenal problems

Causes:

The exact cause of 3MC Syndrome 2 is a mutation in the COLEC11 gene, which is located on chromosome 2p25. This genetic mutation leads to the development of the characteristic facial features and other tissue and organ problems associated with this condition.

References:

  • [1] The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. (Source: Search Result 1)
  • [2-5] The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are also characteristic of 3MC Syndrome 2. (Sources: Search Results 2-5)
  • [9] Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene is referred to as 3MC Syndrome 2. (Source: Search Result 9)

Additional Characteristics

  • Facial Dysmorphism
  • Hypertelorism (widely spaced eyes)
  • Genital abnormalities
  • Blepharophimosis (narrowing of the eye opening)
  • Blepharoptosis (droopy eyelids)
  • Highly arched eyebrows
  • Craniosynostosis (premature closure of the skull bones)
  • Learning disability
  • Limb anomalies
  • Vesicorenal problems

Signs and Symptoms

Common Features of 3MC Syndrome

Three M syndrome, also known as 3MC syndrome, is a rare genetic disorder characterized by several distinct physical and developmental features. Some of the common signs and symptoms of this condition include:

  • Facial Dysmorphism: Individuals with 3MC syndrome often exhibit facial abnormalities such as hypertelorism (increased distance between the eyes), blepharophimosis (drooping eyelids), blepharoptosis (eyelid drooping), and highly arched eyebrows.
  • Cleft Lip and Palate: Cleft lip and palate are also consistent findings in 3MC syndrome, occurring in approximately 40-68% of cases.
  • Postnatal Growth Deficiency: Individuals with this condition often experience slow growth after birth, leading to short stature (dwarfism).
  • Cognitive Impairment: Developmental delay and intellectual disability are common features of 3MC syndrome.
  • Hearing Loss: Hearing loss is also a consistent finding in individuals with this condition.

Additional Symptoms

Other symptoms associated with 3MC syndrome include:

  • Anterior Chamber Defects: Abnormalities in the anterior chamber of the eye
  • Cardiac Anomalies: Congenital heart defects
  • Caudal Appendage: A rare congenital anomaly where a small, usually non-functional, piece of tissue is attached to the lower back
  • Umbilical Hernia/Omphalocele: Abnormalities in the umbilical cord or navel area

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

References:

[1] - [9]

Additional Symptoms

  • Hearing Loss
  • Cognitive Impairment
  • Facial Dysmorphism
  • Cleft Lip and Palate
  • Postnatal Growth Deficiency
  • Anterior Chamber Defects
  • Cardiac Anomalies
  • Caudal Appendage
  • Omphalocele

Diagnostic Tests

Diagnostic Tests for 3MC Syndrome

3MC syndrome, also known as Malpuech syndrome, is a rare genetic disorder characterized by unusual facial features and problems affecting other tissues and organs. Diagnostic testing plays a crucial role in identifying the condition and informing prognosis and clinical management.

  • Genetic tests: Targeted mutation analysis, mutation scanning/screening, and sequence analysis of selected exons are used to identify mutations in the COLEC

Additional Diagnostic Tests

  • Targeted mutation analysis
  • screening
  • sequence analysis of selected exons

Treatment

Treatment Options for 3MC Syndrome

According to various sources, treatment for 3MC syndrome includes supportive care, pharmacological treatment, surgery, and rehabilitation.

  • Supportive Care: This involves providing emotional support and managing symptoms such as cleft lip and/or palate, craniosynostosis, and other developmental anomalies.
  • Pharmacological Treatment: While there are no specific medications approved for 3MC syndrome, treatments may include nocturnal mouthpiece ventilation to manage obstructive sleep apnea [10].
  • Surgery: Surgical interventions may be necessary to correct physical abnormalities such as cleft lip and/or palate, craniosynostosis, and other developmental anomalies.
  • Rehabilitation: Rehabilitation therapies such as speech therapy, occupational therapy, and physical therapy may be necessary to help individuals with 3MC syndrome develop the skills they need for daily living.

It's essential to consult with a healthcare professional for medical advice and treatment [6].

Recommended Medications

  • nocturnal mouthpiece ventilation

💊 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) is a rare genetic disorder characterized by short stature, characteristic abnormalities of the head and face, and other physical features [5]. When considering the differential diagnosis for individuals with suspected 3MC syndrome, several conditions should be taken into account.

  • Syndromic craniosynostosis: This condition involves premature fusion of the bones in the skull, leading to abnormal head shapes and facial features. Crouzon disease is a type of syndromic craniosynostosis that can present with similar symptoms to 3MC syndrome [1][7].
  • Acrofrontofacionasal dysostosis: This rare genetic disorder affects the development of the face, hands, and feet, leading to characteristic physical features. It has been included in the differential diagnosis for 3MC syndrome due to its overlapping symptoms [4][8].
  • Autosomal recessive Robinow syndrome: This is a rare genetic disorder characterized by short stature, facial abnormalities, and other physical features that can be similar to those seen in 3MC syndrome [4][8].

Other Conditions

In addition to these specific syndromes, individuals with suspected 3MC syndrome should also be considered for other conditions that may present with similar symptoms. These include:

  • COLEC10-related 3MC syndrome: This is a rare genetic disorder caused by mutations in the COLEC10 gene. It can lead to short stature, radioulnar synostosis, cleft lip and palate, and other physical features [6][9].
  • Radioulnar synostosis: This condition involves the premature fusion of the radius and ulna bones in the forearm, leading to abnormal bone growth and development.

References

[1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8 [9] Context result 9

Additional Differential Diagnoses

Additional Information

oboInOwl#hasOBONamespace
disease_ontology
oboInOwl#id
DOID:0060576
oboInOwl#hasDbXref
MIM:265050
IAO_0000115
A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25.
relatedICD
http://example.org/icd10/E76.8
rdf-schema#domain
https://w3id.org/def/predibionto#has_symptom_1591
owl#annotatedSource
t341401
core#notation
DOID:0060576
rdf-schema#label
3MC syndrome 2
rdf-schema#subClassOf
http://purl.obolibrary.org/obo/DOID_0060225
owl#disjointWith
http://purl.obolibrary.org/obo/DOID_0060577
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class

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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.