Disease #05896 (3MC (3MC syndrome (3MC)))

Official abbreviation 3MC
Name 3MC syndrome (3MC)
OMIM ID -
Inheritance -
Individuals reported having this disease 28
Phenotype entries for this disease 28
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2021-02-08 14:53:16 +01:00 (CET)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


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28 entries on 1 page. Showing entries 1 - 28.
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00330802 FamMC19.1 PubMed: Munye 2017 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M yes Pakistan - - - - - 3MC small stature (<3rd); no arched eyebrows; blepharoptosis; epicanthus inversus; no hypertelorism; no dysplastic ears; no ear pit(s); no cleft lip (unilateral); no cleft lip (bilateral); no cleft palate (unilateral); no cleft palate (bilateral); no developmental delay; no hypotonia; no radio-ulnar synostosis; no pre-axial polydactyly; no diastasis recti/umbilical hernia; no sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; no patent ductus arteriosus; no horseshoe kidney; no micropenis; no undescended testes; no corneal clouding; no deep set nails; no feeding difficulties COLEC10 COLEC10 2 1 Johan den Dunnen
00330803 FamMC19.2 PubMed: Munye 2017 sister F yes Pakistan - - - - - 3MC small stature (<3rd); no arched eyebrows; blepharoptosis; epicanthus inversus; no hypertelorism; no dysplastic ears; no ear pit(s); cleft lip (unilateral); no cleft lip (bilateral); cleft palate (unilateral); no cleft palate (bilateral); no developmental delay; no hypotonia; no radio-ulnar synostosis; pre-axial polydactyly; no diastasis recti/umbilical hernia; no sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; no patent ductus arteriosus; no horseshoe kidney; no micropenis; no undescended testes; no corneal clouding; no deep set nails; no feeding difficulties COLEC10 COLEC10 2 1 Johan den Dunnen
00330804 FamMC25.1 PubMed: Munye 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Pakistan - - - - - 3MC no small stature (<3rd); no arched eyebrows; blepharoptosis; epicanthus inversus; no hypertelorism; dysplastic ears; ear pit(s); no cleft lip (unilateral); cleft lip (bilateral); no cleft palate (unilateral); cleft palate (bilateral); no developmental delay; no hypotonia; no radio-ulnar synostosis; no pre-axial polydactyly; no diastasis recti/umbilical hernia; sacral dimple/crease; clinodactyly; no ventricular septal defect; no atrial septal defect; no patent ductus arteriosus; no horseshoe kidney; no micropenis; no undescended testes; no corneal clouding; no deep set nails; no feeding difficulties COLEC10 COLEC10 2 1 Johan den Dunnen
00330805 FamMC27.1 PubMed: Munye 2017 - - yes Pakistan - - - - - 3MC no small stature (<3rd); arched eyebrows; blepharoptosis; epicanthus inversus; hypertelorism; no dysplastic ears; no ear pit(s); no cleft lip (unilateral); cleft lip (bilateral); no cleft palate (unilateral); cleft palate (bilateral); developmental delay; no hypotonia; no radio-ulnar synostosis; no pre-axial polydactyly; no diastasis recti/umbilical hernia; sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; patent ductus arteriosus; no horseshoe kidney; micropenis; undescended testes; no corneal clouding; no deep set nails; no feeding difficulties MASP1 MASP1 1 1 Johan den Dunnen
00330806 FamMC29.1 PubMed: Munye 2017 2-generation family, 1 affected, unaffected parents - yes Lebanon - - - - - 3MC no small stature (<3rd); arched eyebrows; blepharoptosis; no epicanthus inversus; no hypertelorism; no dysplastic ears; no ear pit(s); no cleft lip (unilateral); no cleft lip (bilateral); no cleft palate (unilateral); no cleft palate (bilateral); no developmental delay; no hypotonia; radio-ulnar synostosis; no pre-axial polydactyly; diastasis recti/umbilical hernia; no sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; no patent ductus arteriosus; no horseshoe kidney; no micropenis; no undescended testes; no corneal clouding; no deep set nails; no feeding difficulties COLEC11 COLEC11 1 1 Johan den Dunnen
00330807 FamMC35.1 PubMed: Munye 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes Pakistan - - - - - 3MC no small stature (<3rd); arched eyebrows; blepharoptosis; epicanthus inversus; hypertelorism; no dysplastic ears; no ear pit(s); no cleft lip (unilateral); no cleft lip (bilateral); no cleft palate (unilateral); no cleft palate (bilateral); no developmental delay; no hypotonia; no radio-ulnar synostosis; no pre-axial polydactyly; diastasis recti/umbilical hernia; sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; no patent ductus arteriosus; no horseshoe kidney; no micropenis; no undescended testes; no corneal clouding; no deep set nails; no feeding difficulties COLEC11 COLEC11 1 1 Johan den Dunnen
00330808 FamMC37.1 PubMed: Munye 2017 2-generation family, 1 affected, unaffected parents - yes Somalia - - - - - 3MC no small stature (<3rd); arched eyebrows; no blepharoptosis; no epicanthus inversus; no hypertelorism; dysplastic ears; no ear pit(s); no cleft lip (unilateral); no cleft lip (bilateral); no cleft palate (unilateral); no cleft palate (bilateral); no developmental delay; hypotonia; radio-ulnar synostosis; no pre-axial polydactyly; diastasis recti/umbilical hernia; no sacral dimple/crease; no clinodactyly; no ventricular septal defect; no atrial septal defect; no patent ductus arteriosus; horseshoe kidney; no micropenis; no undescended testes; corneal clouding; deep set nails; feeding difficulties COLEC11 COLEC11 1 1 Johan den Dunnen
00330809 FamMC1Pat1.1 PubMed: Rooryck 2011 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents M yes Tunisia - - - - - 3MC no growth deficiency; no cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; cleft lip/palate; no hearing loss; craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; diastasis recti COLEC11 COLEC11 1 2 Johan den Dunnen
00330810 FamMC1Pat1.2 PubMed: Rooryck 2011 sister F yes Tunisia - - - - - 3MC no growth deficiency; no cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; no cleft lip/palate; no hearing loss; craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; diastasis recti COLEC11 COLEC11 1 1 Johan den Dunnen
00330811 FamMC2Pat2.1 PubMed: Rooryck 2011 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F yes Bangladesh - - - - - 3MC growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; no cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti COLEC11 COLEC11 1 2 Johan den Dunnen
00330812 FamMC2Pat2.2 PubMed: Rooryck 2011 brother M yes Bangladesh - - - - - 3MC growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; no cleft lip/palate; hearing loss; craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti COLEC11 COLEC11 1 1 Johan den Dunnen
00330813 FamMC4Pat4.1 PubMed: Rooryck 2011 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M yes Afghanistan - - - - - 3MC growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; renal anomaly; cardiac defect; caudal appendage; genital anomaly; no diastasis recti COLEC11 COLEC11 1 2 Johan den Dunnen
00330814 FamMC4Pat4.2 PubMed: Rooryck 2011 brother M yes Afghanistan - - - - - 3MC growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; anterior chamber anomaly; no renal anomaly; no cardiac defect; caudal appendage; no genital anomaly; no diastasis recti COLEC11 COLEC11 1 1 Johan den Dunnen
00330815 FamMC8Pat8.1 PubMed: Rooryck 2011 - F yes Saudi Arabia - - - - - 3MC growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; no cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; anterior chamber anomaly; renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti COLEC11 COLEC11 1 1 Johan den Dunnen
00330816 FamMC9Pat9.1 PubMed: Rooryck 2011 - F no Pakistan - - - - - 3MC growth deficiency; cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; renal anomaly; cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti COLEC11 COLEC11 1 1 Johan den Dunnen
00330817 FamMC10Pat10 PubMed: Rooryck 2011 - F no Italy - - - - - 3MC no growth deficiency; no cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; high arched palate; no hearing loss; craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; diastasis recti COLEC11 COLEC11 1 1 Johan den Dunnen
00330818 FamMC11Pat11 PubMed: Rooryck 2011 - M yes Italy - - - - - 3MC growth deficiency; cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; high arched palate; no hearing loss; craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; diastasis recti COLEC11 COLEC11 1 1 Johan den Dunnen
00330819 FamMC3Pat3.1 PubMed: Rooryck 2011 5-generation family, 3 affected brothers M yes Greece - - - - - 3MC no growth deficiency; no cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; cleft lip/palate; no hearing loss; craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; renal anomaly; no cardiac defect; no caudal appendage; no genital anomaly; no diastasis recti MASP1 MASP1 1 3 Johan den Dunnen
00330820 FamMC5Pat5.1 PubMed: Rooryck 2011 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M no Italy - - - - - 3MC growth deficiency; no cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; caudal appendage; genital anomaly; no diastasis recti MASP1 MASP1 1 2 Johan den Dunnen
00330821 FamMC5Pat5.2 PubMed: Rooryck 2011 brother M no Italy - - - - - 3MC growth deficiency; no cognitive impairment; hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; no cardiac defect; caudal appendage; genital anomaly; no diastasis recti MASP1 MASP1 1 1 Johan den Dunnen
00330822 FamMC6Pat6.1 PubMed: Rooryck 2011 2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents F no Brazil - - - - - 3MC no growth deficiency; no cognitive impairment; no hypertension; blepharoptosis; blepharophimosis; arched eyebrows; no cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; radioulnar synostosis/limited elbow extension; anterior chamber anomaly; no renal anomaly; no cardiac defect; caudal appendage; no genital anomaly; no diastasis recti MASP1 MASP1 1 2 Johan den Dunnen
00330823 FamMC6Pat6.2 PubMed: Rooryck 2011 sister M no Brazil - - - - - 3MC no growth deficiency; no cognitive impairment; no hypertension; blepharoptosis; no blepharophimosis; arched eyebrows; no cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; no renal anomaly; caudal appendage; genital anomaly; no diastasis recti MASP1 MASP1 1 1 Johan den Dunnen
00330824 FamMC7Pat7.1 PubMed: Rooryck 2011 2-generation family, 2 affected (2M), unaffected heterozygous carrier parents M yes Brazil - - - - - 3MC growth deficiency; no cognitive impairment; hypertension; blepharoptosis; blepharophimosis; arched eyebrows; cleft lip/palate; hearing loss; no craniosynostosis/asymmetric skull; no radioulnar synostosis/limited elbow extension; no anterior chamber anomaly; renal anomaly; no cardiac defect; no caudal appendage; genital anomaly; no diastasis recti MASP1 MASP1 1 2 Johan den Dunnen
00330825 Fam1Pat1 PubMed: Sirmaci 2010 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - 3MC see paper; ..., no short stature, mental retardation; arched eyebrows, no telecanthus, hypertelorism, no blepharophimosis, blepharoptosis, downslanting palpebral fissures; no anterior chamber anomalies; hearing loss; no cleft lip/cleft palate; periumbilical depression; no omphalocele/umbilical hernia; no hip anomaly; deviated or short fingers; limitation elbow movements; no vertebral anomalies; no genital anomalies; vesicorenal anomalies; caudal appendage MASP1 BCL6, MASP1, ST6GAL1 4 2 Johan den Dunnen
00330826 Fam1Pat2 PubMed: Sirmaci 2010 sister F - Turkey - - - - - 3MC see paper; ..., no short stature, mental retardation; arched eyebrows, telecanthus, hypertelorism, no blepharophimosis, blepharoptosis, downslanting palpebral fissures; no anterior chamber anomalies; hearing loss; no cleft lip/cleft palate; periumbilical depression; no omphalocele/umbilical hernia; no hip anomaly; no deviated or short fingers; no limitation elbow movements; no vertebral anomalies; no genital anomalies; no vesicorenal anomalies; caudal appendage MASP1 MASP1 1 1 Johan den Dunnen
00330827 Fam2Pat1 PubMed: Sirmaci 2010 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - 3MC see paper; ..., no short stature, mental retardation; arched eyebrows, telecanthus, no hypertelorism, no blepharophimosis, blepharoptosis, downslanting palpebral fissures; no anterior chamber anomalies; no hearing loss; no cleft lip/cleft palate; periumbilical depression; no omphalocele/umbilical hernia; no hip anomaly; deviated or short fingers; no limitation elbow movements; no vertebral anomalies; no genital anomalies; vesicorenal anomalies; caudal appendage MASP1 MASP1 1 1 Johan den Dunnen
00359454 - - - - - (Brazil) - - - - - 3MC - - CUL7 1 1 Cynthia Silveira
00434423 - - - - - - - - - - - 3MC - MASP1 - - 1 Quaid-i-Azam University
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