Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 164019 Orphanet classification of rare surgical maxillo-facial diseases 68329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68329 Rare maxillo-facial surgical disease Category 1991 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1991 Cleft lip with or without cleft palate Clinical group 141291 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141291 Cleft lip and alveolus Morphological anomaly 199302 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199302 Isolated cleft lip Morphological anomaly 199306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199306 Cleft lip/palate Morphological anomaly 2014 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2014 Cleft palate Clinical group 99771 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99771 Bifid uvula Morphological anomaly 99772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99772 Cleft velum Morphological anomaly 101023 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101023 Cleft hard palate Morphological anomaly 155878 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155878 Submucosal cleft palate Morphological anomaly 664372 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664372 Soft and hard cleft palate Morphological anomaly 141229 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141229 Facial cleft Category 141234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141234 Median facial cleft Clinical group 2006 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2006 Median cleft lip/mandible Morphological anomaly 1791 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791 Frontofacionasal dysplasia Malformation syndrome 2695 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2695 Bifid nose Malformation syndrome 141239 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141239 Median cleft of the upper lip and maxilla Morphological anomaly 141288 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141288 Midline cervical cleft Morphological anomaly 391474 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391474 Frontorhiny Malformation syndrome 401942 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401942 Familial median cleft of the upper and lower lips Malformation syndrome 141253 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141253 Oblique facial cleft Clinical group 141258 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141258 Tessier number 4 facial cleft Morphological anomaly 141261 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141261 Tessier number 5 facial cleft Morphological anomaly 141265 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141265 Tessier number 6 facial cleft Morphological anomaly 155884 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155884 Coloboma of superior eyelid Morphological anomaly 155889 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155889 Coloboma of inferior eyelid Morphological anomaly 141269 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141269 Lateral facial cleft Clinical group 141276 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141276 Tessier number 7 facial cleft Morphological anomaly 155867 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155867 Paramedian facial cleft Clinical group 141242 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141242 Paramedian nasal cleft Morphological anomaly 155896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155896 Otomandibular dysplasia Category 137888 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137888 Auriculocondylar syndrome Malformation syndrome 141132 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132 Oculo-auriculo-vertebral spectrum Malformation syndrome 155899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155899 Mandibulofacial dysostosis Clinical group 861 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 Treacher-Collins syndrome Malformation syndrome 950 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950 Acrodysostosis Malformation syndrome 357158 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome Disease 443995 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995 Mandibulofacial dysostosis with alopecia Malformation syndrome 156202 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156202 Otomandibular dysplasia associated with monogenic syndromes Category 107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 BOR syndrome Malformation syndrome 1296 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296 Lambert syndrome Malformation syndrome 156207 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156207 Macroglossia Category 116 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 Beckwith-Wiedemann syndrome Malformation syndrome 96076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication Etiological subtype 96193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Etiological subtype 231117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Etiological subtype 231120 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation Etiological subtype 231127 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion Etiological subtype 231130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Etiological subtype 2430 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2430 Congenital macroglossia Malformation syndrome 373 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 Simpson-Golabi-Behmel syndrome Malformation syndrome 2128 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2128 Isolated hemihyperplasia Morphological anomaly 141145 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141145 Hemifacial hyperplasia Malformation syndrome 141148 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141148 Hemifacial myohyperplasia Malformation syndrome 156212 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156212 Hypoglossia/aglossia Category 141152 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141152 Isolated congenital hypoglossia/aglossia Morphological anomaly 563954 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563954 Isolated congenital hypoglossia Clinical subtype 563951 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563951 Isolated congenital aglossia Clinical subtype 156215 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156215 Oromandibular-limb anomalies syndrome Category 2749 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2749 Oromandibular-limb hypogenesis syndrome Clinical group 1406 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406 Charlie M syndrome Malformation syndrome 989 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989 Hypoglossia-hypodactyly syndrome Malformation syndrome 141163 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141163 Glossopalatine ankylosis Malformation syndrome 140997 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997 Orofaciodigital syndrome Clinical group 2750 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 Orofaciodigital syndrome type 1 Malformation syndrome 2751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751 Orofaciodigital syndrome type 2 Malformation syndrome 2753 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 Orofaciodigital syndrome type 4 Malformation syndrome 2754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 Orofaciodigital syndrome type 6 Malformation syndrome 2755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755 Orofaciodigital syndrome type 8 Malformation syndrome 2919 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 Orofaciodigital syndrome type 5 Malformation syndrome 141000 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000 Orofaciodigital syndrome type 11 Malformation syndrome 141007 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007 Orofaciodigital syndrome type 9 Malformation syndrome 434179 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 Orofaciodigital syndrome type 14 Malformation syndrome 508501 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501 Orofaciodigital syndrome type 18 Malformation syndrome 156224 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156224 Paralytic facial malformation Category 570 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570 Moebius syndrome Disease 306527 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306527 Isolated hereditary congenital facial paralysis Morphological anomaly 306530 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306530 Congenital hereditary facial paralysis-variable hearing loss syndrome Morphological anomaly 156237 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156237 Syndrome or malformation associated with head and neck malformations Category 276280 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280 Hemihyperplasia-multiple lipomatosis syndrome Malformation syndrome 458833 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458833 Common cystic lymphatic malformation Clinical group 79489 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79489 Macrocystic lymphatic malformation Malformation syndrome 79490 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79490 Microcystic lymphatic malformation Malformation syndrome 458792 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458792 Mixed cystic lymphatic malformation Malformation syndrome 138 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 CHARGE syndrome Malformation syndrome 107 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 BOR syndrome Malformation syndrome 116 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 Beckwith-Wiedemann syndrome Malformation syndrome 96076 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication Etiological subtype 96193 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Etiological subtype 231117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Etiological subtype 231120 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation Etiological subtype 231127 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion Etiological subtype 231130 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Etiological subtype 1600 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1600 Monosomy 18q syndrome Malformation syndrome 246 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246 Postaxial acrofacial dysostosis Malformation syndrome 718 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718 Isolated Pierre Robin sequence Malformation syndrome 744 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 Proteus syndrome Malformation syndrome 3205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 Sturge-Weber syndrome Malformation syndrome 373 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 Simpson-Golabi-Behmel syndrome Malformation syndrome 888 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=888 Van der Woude syndrome Malformation syndrome 1071 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Malformation syndrome 1074 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome Clinical subtype 1072 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome Clinical subtype 1150 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1150 Arthrogryposis multiplex congenita-whistling face syndrome Malformation syndrome 1248 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1248 Maxillonasal dysplasia Malformation syndrome 1896 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896 EEC syndrome Malformation syndrome 2215 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2215 Multiple pterygium-malignant hyperthermia syndrome Malformation syndrome 2461 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2461 Marden-Walker syndrome Malformation syndrome 2952 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2952 Adducted thumbs-arthrogryposis syndrome, Christian type Malformation syndrome 2460 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2460 Van den Ende-Gupta syndrome Malformation syndrome 90650 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 Otopalatodigital syndrome type 1 Malformation syndrome 1401 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1401 CHAND syndrome Malformation syndrome 91397 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91397 Isolated ankyloblepharon filiforme adnatum Morphological anomaly 138044 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138044 Rare disease with Pierre Robin syndrome Category 2886 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886 TARP syndrome Malformation syndrome 138041 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138041 Pierre Robin syndrome associated with collagen disease Category 828 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828 Stickler syndrome Disease 90653 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653 Stickler syndrome type 1 Clinical subtype 90654 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654 Stickler syndrome type 2 Clinical subtype 250984 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984 Autosomal recessive Stickler syndrome Clinical subtype 485 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485 Kniest dysplasia Disease 166100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 Autosomal dominant otospondylomegaepiphyseal dysplasia Malformation syndrome 138047 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138047 Pierre Robin syndrome associated with a chromosomal anomaly Category 567 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 22q11.2 deletion syndrome Malformation syndrome 436003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436003 Contractures-developmental delay-Pierre Robin syndrome Malformation syndrome 261323 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323 21q22.11q22.12 microdeletion syndrome Malformation syndrome 138050 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138050 Pierre Robin syndrome associated with branchial archs anomalies Category 861 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 Treacher-Collins syndrome Malformation syndrome 245 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245 Nager syndrome Malformation syndrome 138055 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138055 Pierre Robin syndrome associated with bone disease Category 87 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 Apert syndrome Malformation syndrome 1190 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1190 Atelosteogenesis type I Malformation syndrome 56304 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304 Atelosteogenesis type II Malformation syndrome 56305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305 Atelosteogenesis type III Malformation syndrome 199 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 Cornelia de Lange syndrome Malformation syndrome 138059 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138059 Teratogenic Pierre Robin syndrome Category 1919 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1919 Phenobarbital embryopathy Malformation syndrome 1920 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1920 Toluene embryopathy Malformation syndrome 1923 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1923 Methimazole embryofetopathy Malformation syndrome 1926 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926 Diabetic embryopathy Malformation syndrome 2209 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 Maternal phenylketonuria syndrome Malformation syndrome 2216 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2216 Maternal hyperthermia-induced birth defects Malformation syndrome 2305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2305 Isotretinoin syndrome Malformation syndrome 1915 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1915 Fetal alcohol syndrome Malformation syndrome 295 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295 Fetal parvovirus syndrome Malformation syndrome 1906 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906 Fetal valproate spectrum disorder Malformation syndrome 1908 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1908 Aminopterin/methotrexate embryofetopathy Malformation syndrome 1909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1909 Indomethacin embryofetopathy Malformation syndrome 1910 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1910 Fetal iodine syndrome Malformation syndrome 1911 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1911 Cocaine embryofetopathy Malformation syndrome 1918 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1918 Fetal minoxidil syndrome Malformation syndrome 1912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1912 Fetal hydantoin syndrome Malformation syndrome 1913 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1913 Fetal trimethadione syndrome Malformation syndrome 1914 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1914 Vitamin K antagonist embryofetopathy Malformation syndrome 1917 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1917 Fetal methylmercury syndrome Malformation syndrome 485358 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485358 Propylthiouracil embryofetopathy Malformation syndrome 364577 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364577 Intellectual disability-brachydactyly-Pierre Robin syndrome Malformation syndrome 139039 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139039 Orofacial clefting syndrome Category 564 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 Meckel syndrome Malformation syndrome 124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124 Diamond-Blackfan anemia Disease 3103 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103 Roberts syndrome Malformation syndrome 1473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473 Uveal coloboma-cleft lip and palate-intellectual disability Malformation syndrome 1358 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358 Carey-Fineman-Ziter syndrome Malformation syndrome 916 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916 Aase-Smith syndrome type 1 Malformation syndrome 920 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920 Ablepharon macrostomia syndrome Malformation syndrome 921 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921 Abruzzo-Erickson syndrome Malformation syndrome 1226 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1226 Bamforth-Lazarus syndrome Malformation syndrome 1241 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1241 Bencze syndrome Malformation syndrome 1297 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297 Branchio-oculo-facial syndrome Malformation syndrome 1388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388 Catel-Manzke syndrome Malformation syndrome 1484 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome Malformation syndrome 1512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1512 Crane-Heise syndrome Malformation syndrome 1794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1794 Oculomaxillofacial dysostosis Malformation syndrome 1988 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1988 Femoral-facial syndrome Malformation syndrome 1993 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1993 Pai syndrome Malformation syndrome 1997 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997 Blepharo-cheilo-odontic syndrome Malformation syndrome 2001 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome Malformation syndrome 2003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2003 Cleft lip/palate-deafness-sacral lipoma syndrome Malformation syndrome 2008 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2008 Acrocardiofacial syndrome Malformation syndrome 2013 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2013 Cleft palate-large ears-small head syndrome Malformation syndrome 2016 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016 Cleft palate-lateral synechia syndrome Malformation syndrome 2075 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2075 Genitopalatocardiac syndrome Malformation syndrome 376 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376 Gordon syndrome Malformation syndrome 2117 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 Hartsfield syndrome Malformation syndrome 2167 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2167 Holzgreve syndrome Malformation syndrome 2189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2189 Hydrolethalus Malformation syndrome 2213 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213 Hypertelorism-microtia-facial clefting syndrome Malformation syndrome 2319 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2319 Juberg-Hayward syndrome Malformation syndrome 2328 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2328 Kapur-Toriello syndrome Malformation syndrome 2432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432 Macrosomia-microphthalmia-cleft palate syndrome Malformation syndrome 2476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome Malformation syndrome 2511 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2511 Microbrachycephaly-ptosis-cleft lip syndrome Malformation syndrome 2521 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome Malformation syndrome 2631 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome Malformation syndrome 2714 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714 Oculo-palato-cerebral syndrome Malformation syndrome 2723 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2723 Odontotrichomelic syndrome Malformation syndrome 2736 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2736 Lethal omphalocele-cleft palate syndrome Malformation syndrome 2804 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2804 W syndrome Malformation syndrome 2825 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2825 PARC syndrome Malformation syndrome 2854 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854 Fuhrmann syndrome Malformation syndrome 2888 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2888 Pierre Robin syndrome-faciodigital anomaly syndrome Malformation syndrome 3021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021 RAPADILINO syndrome Malformation syndrome 3102 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3102 Richieri Costa-Pereira syndrome Malformation syndrome 3104 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3104 Robin sequence-oligodactyly syndrome Malformation syndrome 3201 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome Malformation syndrome 3253 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3253 Cleft lip/palate-ectodermal dysplasia syndrome Malformation syndrome 3316 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316 Thomas syndrome Malformation syndrome 3329 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329 Tibial aplasia-ectrodactyly syndrome Malformation syndrome 3338 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338 Toriello-Carey syndrome Malformation syndrome 3424 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3424 Velo-facial-skeletal syndrome Malformation syndrome 3429 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3429 Verloove Vanhorick-Brubakk syndrome Malformation syndrome 3448 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3448 Weaver-Williams syndrome Malformation syndrome 477993 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome Malformation syndrome 1415 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1415 Hardikar syndrome Malformation syndrome 2015 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2015 Cleft palate-short stature-vertebral anomalies syndrome Malformation syndrome 1779 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1779 Dysmorphism-cleft palate-loose skin syndrome Malformation syndrome 3263 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3263 Syngnathia-cleft palate syndrome Malformation syndrome 503 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503 Larsen syndrome Malformation syndrome 66629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 Goldberg-Shprintzen megacolon syndrome Malformation syndrome 77300 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome Malformation syndrome 79113 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113 Mandibulofacial dysostosis-microcephaly syndrome Malformation syndrome 91494 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91494 Macular coloboma-cleft palate-hallux valgus syndrome Malformation syndrome 140963 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140963 Bilateral microtia-deafness-cleft palate syndrome Malformation syndrome 163649 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome Disease 166100 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 Autosomal dominant otospondylomegaepiphyseal dysplasia Malformation syndrome 168572 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168572 Native American myopathy Malformation syndrome 306542 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome Malformation syndrome 324601 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324601 X-linked cleft palate and ankyloglossia Malformation syndrome 660021 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660021 Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome Malformation syndrome 508476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome Malformation syndrome 140997 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997 Orofaciodigital syndrome Clinical group 2750 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 Orofaciodigital syndrome type 1 Malformation syndrome 2751 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751 Orofaciodigital syndrome type 2 Malformation syndrome 2753 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 Orofaciodigital syndrome type 4 Malformation syndrome 2754 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 Orofaciodigital syndrome type 6 Malformation syndrome 2755 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755 Orofaciodigital syndrome type 8 Malformation syndrome 2919 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 Orofaciodigital syndrome type 5 Malformation syndrome 141000 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000 Orofaciodigital syndrome type 11 Malformation syndrome 141007 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007 Orofaciodigital syndrome type 9 Malformation syndrome 434179 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 Orofaciodigital syndrome type 14 Malformation syndrome 508501 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501 Orofaciodigital syndrome type 18 Malformation syndrome 141214 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141214 Isolated congenital syngnathia Malformation syndrome 294963 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294963 Popliteal pterygium syndrome Clinical group 1234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 Bartsocas-Papas syndrome Malformation syndrome 1300 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300 Autosomal dominant popliteal pterygium syndrome Malformation syndrome 90652 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 Otopalatodigital syndrome type 2 Malformation syndrome 694956 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694956 Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome Malformation syndrome 576278 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576278 SATB2-associated syndrome Malformation syndrome 251028 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028 SATB2-associated syndrome due to a chromosomal rearrangement Etiological subtype 576283 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576283 SATB2-associated syndrome due to a pathogenic variant Etiological subtype 210581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210581 Temporomandibular joint anomaly Category 210576 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210576 Congenital temporomandibular joint ankylosis Disease 477781 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477781 Primary condylar hyperplasia Disease 306553 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306553 Myospherulosis Disease 357154 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357154 Oral submucous fibrosis Disease