Orphanet classification: Rare maxillo-facial surgical disease (ORPHA:68329)
Disorder type: Category
Subcategories and diseases:
Name: Cleft lip with or without cleft palate
OrphaCode: 1991
DisorderType: Clinical group
Children: Name: Cleft lip and alveolus
OrphaCode: 141291
DisorderType: Morphological anomaly
Name: Isolated cleft lip
OrphaCode: 199302
DisorderType: Morphological anomaly
Name: Cleft lip/palate
OrphaCode: 199306
DisorderType: Morphological anomaly
Name: Cleft palate
OrphaCode: 2014
DisorderType: Clinical group
Children: Name: Bifid uvula
OrphaCode: 99771
DisorderType: Morphological anomaly
Name: Cleft velum
OrphaCode: 99772
DisorderType: Morphological anomaly
Name: Cleft hard palate
OrphaCode: 101023
DisorderType: Morphological anomaly
Name: Submucosal cleft palate
OrphaCode: 155878
DisorderType: Morphological anomaly
Name: Soft and hard cleft palate
OrphaCode: 664372
DisorderType: Morphological anomaly
Name: Facial cleft
OrphaCode: 141229
DisorderType: Category
Children: Name: Median facial cleft
OrphaCode: 141234
DisorderType: Clinical group
Children: Name: Median cleft lip/mandible
OrphaCode: 2006
DisorderType: Morphological anomaly
Name: Frontofacionasal dysplasia
OrphaCode: 1791
DisorderType: Malformation syndrome
Name: Bifid nose
OrphaCode: 2695
DisorderType: Malformation syndrome
Name: Median cleft of the upper lip and maxilla
OrphaCode: 141239
DisorderType: Morphological anomaly
Name: Midline cervical cleft
OrphaCode: 141288
DisorderType: Morphological anomaly
Name: Frontorhiny
OrphaCode: 391474
DisorderType: Malformation syndrome
Name: Familial median cleft of the upper and lower lips
OrphaCode: 401942
DisorderType: Malformation syndrome
Name: Oblique facial cleft
OrphaCode: 141253
DisorderType: Clinical group
Children: Name: Tessier number 4 facial cleft
OrphaCode: 141258
DisorderType: Morphological anomaly
Name: Tessier number 5 facial cleft
OrphaCode: 141261
DisorderType: Morphological anomaly
Name: Tessier number 6 facial cleft
OrphaCode: 141265
DisorderType: Morphological anomaly
Name: Coloboma of superior eyelid
OrphaCode: 155884
DisorderType: Morphological anomaly
Name: Coloboma of inferior eyelid
OrphaCode: 155889
DisorderType: Morphological anomaly
Name: Lateral facial cleft
OrphaCode: 141269
DisorderType: Clinical group
Children: Name: Tessier number 7 facial cleft
OrphaCode: 141276
DisorderType: Morphological anomaly
Name: Paramedian facial cleft
OrphaCode: 155867
DisorderType: Clinical group
Children: Name: Paramedian nasal cleft
OrphaCode: 141242
DisorderType: Morphological anomaly
Name: Otomandibular dysplasia
OrphaCode: 155896
DisorderType: Category
Children: Name: Auriculocondylar syndrome
OrphaCode: 137888
DisorderType: Malformation syndrome
Name: Oculo-auriculo-vertebral spectrum
OrphaCode: 141132
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis
OrphaCode: 155899
DisorderType: Clinical group
Children: Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Acrodysostosis
OrphaCode: 950
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
OrphaCode: 357158
DisorderType: Disease
Name: Mandibulofacial dysostosis with alopecia
OrphaCode: 443995
DisorderType: Malformation syndrome
Name: Otomandibular dysplasia associated with monogenic syndromes
OrphaCode: 156202
DisorderType: Category
Children: Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Lambert syndrome
OrphaCode: 1296
DisorderType: Malformation syndrome
Name: Macroglossia
OrphaCode: 156207
DisorderType: Category
Children: Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Congenital macroglossia
OrphaCode: 2430
DisorderType: Malformation syndrome
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Isolated hemihyperplasia
OrphaCode: 2128
DisorderType: Morphological anomaly
Name: Hemifacial hyperplasia
OrphaCode: 141145
DisorderType: Malformation syndrome
Name: Hemifacial myohyperplasia
OrphaCode: 141148
DisorderType: Malformation syndrome
Name: Hypoglossia/aglossia
OrphaCode: 156212
DisorderType: Category
Children: Name: Isolated congenital hypoglossia/aglossia
OrphaCode: 141152
DisorderType: Morphological anomaly
Children: Name: Isolated congenital hypoglossia
OrphaCode: 563954
DisorderType: Clinical subtype
Name: Isolated congenital aglossia
OrphaCode: 563951
DisorderType: Clinical subtype
Name: Oromandibular-limb anomalies syndrome
OrphaCode: 156215
DisorderType: Category
Children: Name: Oromandibular-limb hypogenesis syndrome
OrphaCode: 2749
DisorderType: Clinical group
Children: Name: Charlie M syndrome
OrphaCode: 1406
DisorderType: Malformation syndrome
Name: Hypoglossia-hypodactyly syndrome
OrphaCode: 989
DisorderType: Malformation syndrome
Name: Glossopalatine ankylosis
OrphaCode: 141163
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome
OrphaCode: 140997
DisorderType: Clinical group
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 8
OrphaCode: 2755
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 11
OrphaCode: 141000
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Paralytic facial malformation
OrphaCode: 156224
DisorderType: Category
Children: Name: Moebius syndrome
OrphaCode: 570
DisorderType: Disease
Name: Isolated hereditary congenital facial paralysis
OrphaCode: 306527
DisorderType: Morphological anomaly
Name: Congenital hereditary facial paralysis-variable hearing loss syndrome
OrphaCode: 306530
DisorderType: Morphological anomaly
Name: Syndrome or malformation associated with head and neck malformations
OrphaCode: 156237
DisorderType: Category
Children: Name: Hemihyperplasia-multiple lipomatosis syndrome
OrphaCode: 276280
DisorderType: Malformation syndrome
Name: CHARGE syndrome
OrphaCode: 138
DisorderType: Malformation syndrome
Name: BOR syndrome
OrphaCode: 107
DisorderType: Malformation syndrome
Name: Beckwith-Wiedemann syndrome
OrphaCode: 116
DisorderType: Malformation syndrome
Children: Name: Beckwith-Wiedemann syndrome due to 11p15 microduplication
OrphaCode: 96076
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
OrphaCode: 96193
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
OrphaCode: 231117
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to CDKN1C mutation
OrphaCode: 231120
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
OrphaCode: 231127
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
OrphaCode: 231130
DisorderType: Etiological subtype
Name: Beckwith-Wiedemann syndrome due to NSD1 mutation
OrphaCode: 238613
DisorderType: Etiological subtype
Name: Monosomy 18q
OrphaCode: 1600
DisorderType: Malformation syndrome
Name: Postaxial acrofacial dysostosis
OrphaCode: 246
DisorderType: Malformation syndrome
Name: Isolated Pierre Robin syndrome
OrphaCode: 718
DisorderType: Malformation syndrome
Name: Proteus syndrome
OrphaCode: 744
DisorderType: Malformation syndrome
Name: Sturge-Weber syndrome
OrphaCode: 3205
DisorderType: Malformation syndrome
Name: Simpson-Golabi-Behmel syndrome
OrphaCode: 373
DisorderType: Malformation syndrome
Name: Van der Woude syndrome
OrphaCode: 888
DisorderType: Malformation syndrome
Name: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OrphaCode: 1071
DisorderType: Malformation syndrome
Children: Name: Ankyloblepharon filiforme adnatum-imperforate anus syndrome
OrphaCode: 1074
DisorderType: Clinical subtype
Name: Ankyloblepharon filiforme adnatum-cleft palate syndrome
OrphaCode: 1072
DisorderType: Clinical subtype
Name: Arthrogryposis multiplex congenita-whistling face syndrome
OrphaCode: 1150
DisorderType: Malformation syndrome
Name: Maxillonasal dysplasia
OrphaCode: 1248
DisorderType: Malformation syndrome
Name: EEC syndrome
OrphaCode: 1896
DisorderType: Malformation syndrome
Name: Multiple pterygium-malignant hyperthermia syndrome
OrphaCode: 2215
DisorderType: Malformation syndrome
Name: Marden-Walker syndrome
OrphaCode: 2461
DisorderType: Malformation syndrome
Name: Adducted thumbs-arthrogryposis syndrome, Christian type
OrphaCode: 2952
DisorderType: Malformation syndrome
Name: Van den Ende-Gupta syndrome
OrphaCode: 2460
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 1
OrphaCode: 90650
DisorderType: Malformation syndrome
Name: CHAND syndrome
OrphaCode: 1401
DisorderType: Malformation syndrome
Name: Isolated ankyloblepharon filiforme adnatum
OrphaCode: 91397
DisorderType: Morphological anomaly
Name: Rare disease with Pierre Robin syndrome
OrphaCode: 138044
DisorderType: Category
Children: Name: TARP syndrome
OrphaCode: 2886
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome associated with collagen disease
OrphaCode: 138041
DisorderType: Category
Children: Name: Stickler syndrome
OrphaCode: 828
DisorderType: Disease
Children: Name: Stickler syndrome type 1
OrphaCode: 90653
DisorderType: Clinical subtype
Name: Stickler syndrome type 2
OrphaCode: 90654
DisorderType: Clinical subtype
Name: Autosomal recessive Stickler syndrome
OrphaCode: 250984
DisorderType: Clinical subtype
Name: Kniest dysplasia
OrphaCode: 485
DisorderType: Disease
Name: Autosomal dominant otospondylomegaepiphyseal dysplasia
OrphaCode: 166100
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome associated with a chromosomal anomaly
OrphaCode: 138047
DisorderType: Category
Children: Name: 22q11.2 deletion syndrome
OrphaCode: 567
DisorderType: Malformation syndrome
Name: Contractures-developmental delay-Pierre Robin syndrome
OrphaCode: 436003
DisorderType: Malformation syndrome
Name: 21q22.11q22.12 microdeletion syndrome
OrphaCode: 261323
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome associated with branchial archs anomalies
OrphaCode: 138050
DisorderType: Category
Children: Name: Treacher-Collins syndrome
OrphaCode: 861
DisorderType: Malformation syndrome
Name: Nager syndrome
OrphaCode: 245
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome associated with bone disease
OrphaCode: 138055
DisorderType: Category
Children: Name: Apert syndrome
OrphaCode: 87
DisorderType: Malformation syndrome
Name: Atelosteogenesis type I
OrphaCode: 1190
DisorderType: Malformation syndrome
Name: Atelosteogenesis type II
OrphaCode: 56304
DisorderType: Malformation syndrome
Name: Atelosteogenesis type III
OrphaCode: 56305
DisorderType: Malformation syndrome
Name: Cornelia de Lange syndrome
OrphaCode: 199
DisorderType: Malformation syndrome
Name: Teratogenic Pierre Robin syndrome
OrphaCode: 138059
DisorderType: Category
Children: Name: Phenobarbital embryopathy
OrphaCode: 1919
DisorderType: Malformation syndrome
Name: Toluene embryopathy
OrphaCode: 1920
DisorderType: Malformation syndrome
Name: Methimazole embryofetopathy
OrphaCode: 1923
DisorderType: Malformation syndrome
Name: Diabetic embryopathy
OrphaCode: 1926
DisorderType: Malformation syndrome
Name: Maternal phenylketonuria
OrphaCode: 2209
DisorderType: Malformation syndrome
Name: Maternal hyperthermia-induced birth defects
OrphaCode: 2216
DisorderType: Malformation syndrome
Name: Isotretinoin syndrome
OrphaCode: 2305
DisorderType: Malformation syndrome
Name: Fetal alcohol syndrome
OrphaCode: 1915
DisorderType: Malformation syndrome
Name: Fetal parvovirus syndrome
OrphaCode: 295
DisorderType: Malformation syndrome
Name: Fetal valproate spectrum disorder
OrphaCode: 1906
DisorderType: Malformation syndrome
Name: Aminopterin/methotrexate embryofetopathy
OrphaCode: 1908
DisorderType: Malformation syndrome
Name: Indomethacin embryofetopathy
OrphaCode: 1909
DisorderType: Malformation syndrome
Name: Fetal iodine syndrome
OrphaCode: 1910
DisorderType: Malformation syndrome
Name: Cocaine embryofetopathy
OrphaCode: 1911
DisorderType: Malformation syndrome
Name: Fetal minoxidil syndrome
OrphaCode: 1918
DisorderType: Malformation syndrome
Name: Fetal hydantoin syndrome
OrphaCode: 1912
DisorderType: Malformation syndrome
Name: Fetal trimethadione syndrome
OrphaCode: 1913
DisorderType: Malformation syndrome
Name: Vitamin K antagonist embryofetopathy
OrphaCode: 1914
DisorderType: Malformation syndrome
Name: Fetal methylmercury syndrome
OrphaCode: 1917
DisorderType: Malformation syndrome
Name: Propylthiouracil embryofetopathy
OrphaCode: 485358
DisorderType: Malformation syndrome
Name: Intellectual disability-brachydactyly-Pierre Robin syndrome
OrphaCode: 364577
DisorderType: Malformation syndrome
Name: Orofacial clefting syndrome
OrphaCode: 139039
DisorderType: Category
Children: Name: Meckel syndrome
OrphaCode: 564
DisorderType: Malformation syndrome
Name: Diamond-Blackfan anemia
OrphaCode: 124
DisorderType: Disease
Name: Roberts syndrome
OrphaCode: 3103
DisorderType: Malformation syndrome
Name: Uveal coloboma-cleft lip and palate-intellectual disability
OrphaCode: 1473
DisorderType: Malformation syndrome
Name: Carey-Fineman-Ziter syndrome
OrphaCode: 1358
DisorderType: Malformation syndrome
Name: Aase-Smith syndrome
OrphaCode: 916
DisorderType: Malformation syndrome
Name: Ablepharon macrostomia syndrome
OrphaCode: 920
DisorderType: Malformation syndrome
Name: Abruzzo-Erickson syndrome
OrphaCode: 921
DisorderType: Malformation syndrome
Name: Bamforth-Lazarus syndrome
OrphaCode: 1226
DisorderType: Malformation syndrome
Name: Bencze syndrome
OrphaCode: 1241
DisorderType: Malformation syndrome
Name: Branchio-oculo-facial syndrome
OrphaCode: 1297
DisorderType: Malformation syndrome
Name: Catel-Manzke syndrome
OrphaCode: 1388
DisorderType: Malformation syndrome
Name: Contractures-ectodermal dysplasia-cleft lip/palate syndrome
OrphaCode: 1484
DisorderType: Malformation syndrome
Name: Crane-Heise syndrome
OrphaCode: 1512
DisorderType: Malformation syndrome
Name: Oculomaxillofacial dysostosis
OrphaCode: 1794
DisorderType: Malformation syndrome
Name: Femoral-facial syndrome
OrphaCode: 1988
DisorderType: Malformation syndrome
Name: Pai syndrome
OrphaCode: 1993
DisorderType: Malformation syndrome
Name: Cleft lip-retinopathy syndrome
OrphaCode: 1995
DisorderType: Malformation syndrome
Name: Blepharo-cheilo-odontic syndrome
OrphaCode: 1997
DisorderType: Malformation syndrome
Name: Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
OrphaCode: 2001
DisorderType: Malformation syndrome
Name: Cleft lip/palate-deafness-sacral lipoma syndrome
OrphaCode: 2003
DisorderType: Malformation syndrome
Name: Acrocardiofacial syndrome
OrphaCode: 2008
DisorderType: Malformation syndrome
Name: Cleft palate-large ears-small head syndrome
OrphaCode: 2013
DisorderType: Malformation syndrome
Name: Cleft palate-lateral synechia syndrome
OrphaCode: 2016
DisorderType: Malformation syndrome
Name: Genitopalatocardiac syndrome
OrphaCode: 2075
DisorderType: Malformation syndrome
Name: Gordon syndrome
OrphaCode: 376
DisorderType: Malformation syndrome
Name: Hartsfield syndrome
OrphaCode: 2117
DisorderType: Malformation syndrome
Name: Holzgreve syndrome
OrphaCode: 2167
DisorderType: Malformation syndrome
Name: Hydrolethalus
OrphaCode: 2189
DisorderType: Malformation syndrome
Name: Hypertelorism-microtia-facial clefting syndrome
OrphaCode: 2213
DisorderType: Malformation syndrome
Name: Juberg-Hayward syndrome
OrphaCode: 2319
DisorderType: Malformation syndrome
Name: Kapur-Toriello syndrome
OrphaCode: 2328
DisorderType: Malformation syndrome
Name: Macrosomia-microphthalmia-cleft palate syndrome
OrphaCode: 2432
DisorderType: Malformation syndrome
Name: Dysraphism-cleft lip/palate-limb reduction defects syndrome
OrphaCode: 2476
DisorderType: Malformation syndrome
Name: Microbrachycephaly-ptosis-cleft lip syndrome
OrphaCode: 2511
DisorderType: Malformation syndrome
Name: Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
OrphaCode: 2521
DisorderType: Malformation syndrome
Name: Mesomelic dwarfism-cleft palate-camptodactyly syndrome
OrphaCode: 2631
DisorderType: Malformation syndrome
Name: Oculo-palato-cerebral syndrome
OrphaCode: 2714
DisorderType: Malformation syndrome
Name: Odontotrichomelic syndrome
OrphaCode: 2723
DisorderType: Malformation syndrome
Name: Lethal omphalocele-cleft palate syndrome
OrphaCode: 2736
DisorderType: Malformation syndrome
Name: W syndrome
OrphaCode: 2804
DisorderType: Malformation syndrome
Name: PARC syndrome
OrphaCode: 2825
DisorderType: Malformation syndrome
Name: Fuhrmann syndrome
OrphaCode: 2854
DisorderType: Malformation syndrome
Name: Pierre Robin syndrome-faciodigital anomaly syndrome
OrphaCode: 2888
DisorderType: Malformation syndrome
Name: RAPADILINO syndrome
OrphaCode: 3021
DisorderType: Malformation syndrome
Name: Richieri Costa-Pereira syndrome
OrphaCode: 3102
DisorderType: Malformation syndrome
Name: Robin sequence-oligodactyly syndrome
OrphaCode: 3104
DisorderType: Malformation syndrome
Name: Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
OrphaCode: 3201
DisorderType: Malformation syndrome
Name: Cleft lip/palate-ectodermal dysplasia syndrome
OrphaCode: 3253
DisorderType: Malformation syndrome
Name: Thomas syndrome
OrphaCode: 3316
DisorderType: Malformation syndrome
Name: Tibial aplasia-ectrodactyly syndrome
OrphaCode: 3329
DisorderType: Malformation syndrome
Name: Toriello-Carey syndrome
OrphaCode: 3338
DisorderType: Malformation syndrome
Name: Velo-facial-skeletal syndrome
OrphaCode: 3424
DisorderType: Malformation syndrome
Name: Verloove Vanhorick-Brubakk syndrome
OrphaCode: 3429
DisorderType: Malformation syndrome
Name: Weaver-Williams syndrome
OrphaCode: 3448
DisorderType: Malformation syndrome
Name: Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
OrphaCode: 477993
DisorderType: Malformation syndrome
Name: Hardikar syndrome
OrphaCode: 1415
DisorderType: Malformation syndrome
Name: Cleft palate-short stature-vertebral anomalies syndrome
OrphaCode: 2015
DisorderType: Malformation syndrome
Name: Dysmorphism-cleft palate-loose skin syndrome
OrphaCode: 1779
DisorderType: Malformation syndrome
Name: Syngnathia-cleft palate syndrome
OrphaCode: 3263
DisorderType: Malformation syndrome
Name: Larsen syndrome
OrphaCode: 503
DisorderType: Malformation syndrome
Name: Goldberg-Shprintzen megacolon syndrome
OrphaCode: 66629
DisorderType: Malformation syndrome
Name: Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
OrphaCode: 77300
DisorderType: Malformation syndrome
Name: Mandibulofacial dysostosis-microcephaly syndrome
OrphaCode: 79113
DisorderType: Malformation syndrome
Name: Macular coloboma-cleft palate-hallux valgus syndrome
OrphaCode: 91494
DisorderType: Malformation syndrome
Name: Bilateral microtia-deafness-cleft palate syndrome
OrphaCode: 140963
DisorderType: Malformation syndrome
Name: Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
OrphaCode: 163649
DisorderType: Disease
Name: Autosomal dominant otospondylomegaepiphyseal dysplasia
OrphaCode: 166100
DisorderType: Malformation syndrome
Name: Native American myopathy
OrphaCode: 168572
DisorderType: Malformation syndrome
Name: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
OrphaCode: 306542
DisorderType: Malformation syndrome
Name: X-linked cleft palate and ankyloglossia
OrphaCode: 324601
DisorderType: Malformation syndrome
Name: Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
OrphaCode: 660021
DisorderType: Malformation syndrome
Name: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
OrphaCode: 508476
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome
OrphaCode: 140997
DisorderType: Clinical group
Children: Name: Orofaciodigital syndrome type 1
OrphaCode: 2750
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 2
OrphaCode: 2751
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 4
OrphaCode: 2753
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 6
OrphaCode: 2754
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 8
OrphaCode: 2755
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 5
OrphaCode: 2919
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 11
OrphaCode: 141000
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 9
OrphaCode: 141007
DisorderType: Malformation syndrome
Name: Orofaciodigital syndrome type 14
OrphaCode: 434179
DisorderType: Malformation syndrome
Name: Oral-facial-digital syndrome with short stature and brachymesophalangy
OrphaCode: 508501
DisorderType: Malformation syndrome
Name: Isolated congenital syngnathia
OrphaCode: 141214
DisorderType: Malformation syndrome
Name: Popliteal pterygium syndrome
OrphaCode: 294963
DisorderType: Clinical group
Children: Name: Bartsocas-Papas syndrome
OrphaCode: 1234
DisorderType: Malformation syndrome
Name: Autosomal dominant popliteal pterygium syndrome
OrphaCode: 1300
DisorderType: Malformation syndrome
Name: Otopalatodigital syndrome type 2
OrphaCode: 90652
DisorderType: Malformation syndrome
Name: SATB2-associated syndrome
OrphaCode: 576278
DisorderType: Malformation syndrome
Children: Name: SATB2-associated syndrome due to a chromosomal rearrangement
OrphaCode: 251028
DisorderType: Etiological subtype
Name: SATB2-associated syndrome due to a pathogenic variant
OrphaCode: 576283
DisorderType: Etiological subtype
Name: Temporomandibular joint anomaly
OrphaCode: 210581
DisorderType: Category
Children: Name: Congenital temporomandibular joint ankylosis
OrphaCode: 210576
DisorderType: Disease
Name: Primary condylar hyperplasia
OrphaCode: 477781
DisorderType: Disease
Name: Myospherulosis
OrphaCode: 306553
DisorderType: Disease
Name: Oral submucous fibrosis
OrphaCode: 357154
DisorderType: Disease