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- Rare maxillo-facial surgical disease ORPHA:68329
- Cleft lip with or without cleft palate ORPHA:1991
- Cleft palate ORPHA:2014
- Facial cleft ORPHA:141229
- Median facial cleft ORPHA:141234
- Median cleft lip/mandible ORPHA:2006
- Frontofacionasal dysplasia ORPHA:1791
- Bifid nose ORPHA:2695
- Median cleft of the upper lip and maxilla ORPHA:141239
- Midline cervical cleft ORPHA:141288
- Frontorhiny ORPHA:391474
- Familial median cleft of the upper and lower lips ORPHA:401942
- Oblique facial cleft ORPHA:141253
- Tessier number 4 facial cleft ORPHA:141258
- Tessier number 5 facial cleft ORPHA:141261
- Tessier number 6 facial cleft ORPHA:141265
- Coloboma of superior eyelid ORPHA:155884
- Coloboma of inferior eyelid ORPHA:155889
- Lateral facial cleft ORPHA:141269
- Paramedian facial cleft ORPHA:155867
- Otomandibular dysplasia ORPHA:155896
- Auriculocondylar syndrome ORPHA:137888
- Oculo-auriculo-vertebral spectrum ORPHA:141132
- Mandibulofacial dysostosis ORPHA:155899
- Treacher-Collins syndrome ORPHA:861
- Acrodysostosis ORPHA:950
- Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome ORPHA:357158
- Mandibulofacial dysostosis with alopecia ORPHA:443995
- Otomandibular dysplasia associated with monogenic syndromes ORPHA:156202
- Macroglossia ORPHA:156207
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Congenital macroglossia ORPHA:2430
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Isolated hemihyperplasia ORPHA:2128
- Hemifacial hyperplasia ORPHA:141145
- Hemifacial myohyperplasia ORPHA:141148
- Hypoglossia/aglossia ORPHA:156212
- Isolated congenital hypoglossia/aglossia ORPHA:141152
- Oromandibular-limb anomalies syndrome ORPHA:156215
- Oromandibular-limb hypogenesis syndrome ORPHA:2749
- Charlie M syndrome ORPHA:1406
- Hypoglossia-hypodactyly syndrome ORPHA:989
- Glossopalatine ankylosis ORPHA:141163
- Orofaciodigital syndrome ORPHA:140997
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Orofaciodigital syndrome type 8 ORPHA:2755
- Orofaciodigital syndrome type 5 ORPHA:2919
- Orofaciodigital syndrome type 11 ORPHA:141000
- Orofaciodigital syndrome type 9 ORPHA:141007
- Orofaciodigital syndrome type 14 ORPHA:434179
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Paralytic facial malformation ORPHA:156224
- Syndrome or malformation associated with head and neck malformations ORPHA:156237
- Hemihyperplasia-multiple lipomatosis syndrome ORPHA:276280
- CHARGE syndrome ORPHA:138
- BOR syndrome ORPHA:107
- Beckwith-Wiedemann syndrome ORPHA:116
- Beckwith-Wiedemann syndrome due to 11p15 microduplication ORPHA:96076
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 ORPHA:96193
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 ORPHA:231117
- Beckwith-Wiedemann syndrome due to CDKN1C mutation ORPHA:231120
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion ORPHA:231127
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion ORPHA:231130
- Beckwith-Wiedemann syndrome due to NSD1 mutation ORPHA:238613
- Monosomy 18q syndrome ORPHA:1600
- Postaxial acrofacial dysostosis ORPHA:246
- Isolated Pierre Robin sequence ORPHA:718
- Proteus syndrome ORPHA:744
- Sturge-Weber syndrome ORPHA:3205
- Simpson-Golabi-Behmel syndrome ORPHA:373
- Van der Woude syndrome ORPHA:888
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ORPHA:1071
- Ankyloblepharon filiforme adnatum-imperforate anus syndrome ORPHA:1074
- Ankyloblepharon filiforme adnatum-cleft palate syndrome ORPHA:1072
- Arthrogryposis multiplex congenita-whistling face syndrome ORPHA:1150
- Maxillonasal dysplasia ORPHA:1248
- EEC syndrome ORPHA:1896
- Multiple pterygium-malignant hyperthermia syndrome ORPHA:2215
- Marden-Walker syndrome ORPHA:2461
- Adducted thumbs-arthrogryposis syndrome, Christian type ORPHA:2952
- Van den Ende-Gupta syndrome ORPHA:2460
- Otopalatodigital syndrome type 1 ORPHA:90650
- CHAND syndrome ORPHA:1401
- Isolated ankyloblepharon filiforme adnatum ORPHA:91397
- Rare disease with Pierre Robin syndrome ORPHA:138044
- TARP syndrome ORPHA:2886
- Pierre Robin syndrome associated with collagen disease ORPHA:138041
- Stickler syndrome ORPHA:828
- Stickler syndrome type 1 ORPHA:90653
- Stickler syndrome type 2 ORPHA:90654
- Autosomal recessive Stickler syndrome ORPHA:250984
- Kniest dysplasia ORPHA:485
- Autosomal dominant otospondylomegaepiphyseal dysplasia ORPHA:166100
- Pierre Robin syndrome associated with a chromosomal anomaly ORPHA:138047
- 22q11.2 deletion syndrome ORPHA:567
- Contractures-developmental delay-Pierre Robin syndrome ORPHA:436003
- 21q22.11q22.12 microdeletion syndrome ORPHA:261323
- Pierre Robin syndrome associated with branchial archs anomalies ORPHA:138050
- Pierre Robin syndrome associated with bone disease ORPHA:138055
- Apert syndrome ORPHA:87
- Atelosteogenesis type I ORPHA:1190
- Atelosteogenesis type II ORPHA:56304
- Atelosteogenesis type III ORPHA:56305
- Cornelia de Lange syndrome ORPHA:199
- Teratogenic Pierre Robin syndrome ORPHA:138059
- Phenobarbital embryopathy ORPHA:1919
- Toluene embryopathy ORPHA:1920
- Methimazole embryofetopathy ORPHA:1923
- Diabetic embryopathy ORPHA:1926
- Maternal phenylketonuria syndrome ORPHA:2209
- Maternal hyperthermia-induced birth defects ORPHA:2216
- Isotretinoin syndrome ORPHA:2305
- Fetal alcohol syndrome ORPHA:1915
- Fetal parvovirus syndrome ORPHA:295
- Fetal valproate spectrum disorder ORPHA:1906
- Aminopterin/methotrexate embryofetopathy ORPHA:1908
- Indomethacin embryofetopathy ORPHA:1909
- Fetal iodine syndrome ORPHA:1910
- Cocaine embryofetopathy ORPHA:1911
- Fetal minoxidil syndrome ORPHA:1918
- Fetal hydantoin syndrome ORPHA:1912
- Fetal trimethadione syndrome ORPHA:1913
- Vitamin K antagonist embryofetopathy ORPHA:1914
- Fetal methylmercury syndrome ORPHA:1917
- Propylthiouracil embryofetopathy ORPHA:485358
- Intellectual disability-brachydactyly-Pierre Robin syndrome ORPHA:364577
- Orofacial clefting syndrome ORPHA:139039
- Meckel syndrome ORPHA:564
- Diamond-Blackfan anemia ORPHA:124
- Roberts syndrome ORPHA:3103
- Uveal coloboma-cleft lip and palate-intellectual disability ORPHA:1473
- Carey-Fineman-Ziter syndrome ORPHA:1358
- Aase-Smith syndrome ORPHA:916
- Ablepharon macrostomia syndrome ORPHA:920
- Abruzzo-Erickson syndrome ORPHA:921
- Bamforth-Lazarus syndrome ORPHA:1226
- Bencze syndrome ORPHA:1241
- Branchio-oculo-facial syndrome ORPHA:1297
- Catel-Manzke syndrome ORPHA:1388
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome ORPHA:1484
- Crane-Heise syndrome ORPHA:1512
- Oculomaxillofacial dysostosis ORPHA:1794
- Femoral-facial syndrome ORPHA:1988
- Pai syndrome ORPHA:1993
- Cleft lip-retinopathy syndrome ORPHA:1995
- Blepharo-cheilo-odontic syndrome ORPHA:1997
- Cleft lip/palate-intestinal malrotation-cardiopathy syndrome ORPHA:2001
- Cleft lip/palate-deafness-sacral lipoma syndrome ORPHA:2003
- Acrocardiofacial syndrome ORPHA:2008
- Cleft palate-large ears-small head syndrome ORPHA:2013
- Cleft palate-lateral synechia syndrome ORPHA:2016
- Genitopalatocardiac syndrome ORPHA:2075
- Gordon syndrome ORPHA:376
- Hartsfield syndrome ORPHA:2117
- Holzgreve syndrome ORPHA:2167
- Hydrolethalus ORPHA:2189
- Hypertelorism-microtia-facial clefting syndrome ORPHA:2213
- Juberg-Hayward syndrome ORPHA:2319
- Kapur-Toriello syndrome ORPHA:2328
- Macrosomia-microphthalmia-cleft palate syndrome ORPHA:2432
- Dysraphism-cleft lip/palate-limb reduction defects syndrome ORPHA:2476
- Microbrachycephaly-ptosis-cleft lip syndrome ORPHA:2511
- Microcephaly-cleft palate-abnormal retinal pigmentation syndrome ORPHA:2521
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome ORPHA:2631
- Oculo-palato-cerebral syndrome ORPHA:2714
- Odontotrichomelic syndrome ORPHA:2723
- Lethal omphalocele-cleft palate syndrome ORPHA:2736
- W syndrome ORPHA:2804
- PARC syndrome ORPHA:2825
- Fuhrmann syndrome ORPHA:2854
- Pierre Robin syndrome-faciodigital anomaly syndrome ORPHA:2888
- RAPADILINO syndrome ORPHA:3021
- Richieri Costa-Pereira syndrome ORPHA:3102
- Robin sequence-oligodactyly syndrome ORPHA:3104
- Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome ORPHA:3201
- Cleft lip/palate-ectodermal dysplasia syndrome ORPHA:3253
- Thomas syndrome ORPHA:3316
- Tibial aplasia-ectrodactyly syndrome ORPHA:3329
- Toriello-Carey syndrome ORPHA:3338
- Velo-facial-skeletal syndrome ORPHA:3424
- Verloove Vanhorick-Brubakk syndrome ORPHA:3429
- Weaver-Williams syndrome ORPHA:3448
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome ORPHA:477993
- Hardikar syndrome ORPHA:1415
- Cleft palate-short stature-vertebral anomalies syndrome ORPHA:2015
- Dysmorphism-cleft palate-loose skin syndrome ORPHA:1779
- Syngnathia-cleft palate syndrome ORPHA:3263
- Larsen syndrome ORPHA:503
- Goldberg-Shprintzen megacolon syndrome ORPHA:66629
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome ORPHA:77300
- Mandibulofacial dysostosis-microcephaly syndrome ORPHA:79113
- Macular coloboma-cleft palate-hallux valgus syndrome ORPHA:91494
- Bilateral microtia-deafness-cleft palate syndrome ORPHA:140963
- Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome ORPHA:163649
- Autosomal dominant otospondylomegaepiphyseal dysplasia ORPHA:166100
- Native American myopathy ORPHA:168572
- Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome ORPHA:306542
- X-linked cleft palate and ankyloglossia ORPHA:324601
- Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome ORPHA:660021
- Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ORPHA:508476
- Orofaciodigital syndrome ORPHA:140997
- Orofaciodigital syndrome type 1 ORPHA:2750
- Orofaciodigital syndrome type 2 ORPHA:2751
- Orofaciodigital syndrome type 4 ORPHA:2753
- Orofaciodigital syndrome type 6 ORPHA:2754
- Orofaciodigital syndrome type 8 ORPHA:2755
- Orofaciodigital syndrome type 5 ORPHA:2919
- Orofaciodigital syndrome type 11 ORPHA:141000
- Orofaciodigital syndrome type 9 ORPHA:141007
- Orofaciodigital syndrome type 14 ORPHA:434179
- Oral-facial-digital syndrome with short stature and brachymesophalangy ORPHA:508501
- Isolated congenital syngnathia ORPHA:141214
- Popliteal pterygium syndrome ORPHA:294963
- Otopalatodigital syndrome type 2 ORPHA:90652
- SATB2-associated syndrome ORPHA:576278
- Temporomandibular joint anomaly ORPHA:210581
- Myospherulosis ORPHA:306553
- Oral submucous fibrosis ORPHA:357154