Cleft palate

Symptom Information:

Symptom ID: HPO:0000175
Synonyms:
Cleft palate [OMIM:Cleft palate]
Cleft palate (1 patient) [OMIM:Cleft palate (1 patient)]
Cleft palate (1 patient, WWS) [OMIM:Cleft palate (1 patient, WWS)]
Cleft palate (27%) [OMIM:Cleft palate (27%)]
Cleft palate (31% of patients) [OMIM:Cleft palate (31% of patients)]
Cleft palate (4%) [OMIM:Cleft palate (4%)]
Cleft palate (WWS) [OMIM:Cleft palate (WWS)]
Cleft palate (in some patients) [OMIM:Cleft palate (in some patients)]
Cleft palate (less common) [OMIM:Cleft palate (less common)]
Cleft palate (rare) [OMIM:Cleft palate (rare)]
Cleft palate (reported in 1 patient) [OMIM:Cleft palate (reported in 1 patient)]
Cleft palate (severe form) [OMIM:Cleft palate (severe form)]
Cleft palate (uncommon) [OMIM:Cleft palate (uncommon)]
Cleft palate (variable) [OMIM:Cleft palate (variable)]
Cleft palate [MedDRA:10009269]
Isolated cleft palate [Orphanet:11900]
Uranostaphyloschisis (disorder) [Orphanet:11900]
Palatoschisis (disorder) [Orphanet:11900]
Cleft palate (disorder) [Orphanet:11900]
Uranostaphyloschisis [Orphanet:11900]
Cleft Palate [Orphanet:11900]
Cleft palate without cleft lip/submucosal cleft palate/bifid uvula [Orphanet:11900]
Cleft palate, isolated [OMIM:Cleft palate, isolated]
Quality:
Cross references:
Orphanet:11900 "Cleft palate without cleft lip/submucosal cleft palate/bifid uvula" [Orphanet:11900]
OMIM: "Cleft palate" [OMIM:Cleft palate]
OMIM: "Cleft palate (1 patient)" [OMIM:Cleft palate (1 patient)]
OMIM: "Cleft palate (1 patient, WWS)" [OMIM:Cleft palate (1 patient, WWS)]
OMIM: "Cleft palate (27%)" [OMIM:Cleft palate (27%)]
OMIM: "Cleft palate (31% of patients)" [OMIM:Cleft palate (31% of patients)]
OMIM: "Cleft palate (4%)" [OMIM:Cleft palate (4%)]
OMIM: "Cleft palate (WWS)" [OMIM:Cleft palate (WWS)]
OMIM: "Cleft palate (in some patients)" [OMIM:Cleft palate (in some patients)]
OMIM: "Cleft palate (less common)" [OMIM:Cleft palate (less common)]
OMIM: "Cleft palate (rare)" [OMIM:Cleft palate (rare)]
OMIM: "Cleft palate (reported in 1 patient)" [OMIM:Cleft palate (reported in 1 patient)]
OMIM: "Cleft palate (severe form)" [OMIM:Cleft palate (severe form)]
OMIM: "Cleft palate (uncommon)" [OMIM:Cleft palate (uncommon)]
OMIM: "Cleft palate (variable)" [OMIM:Cleft palate (variable)]
OMIM: "Cleft palate, isolated" [OMIM:Cleft palate, isolated]
UMLS:C2981150 "Uranostaphyloschisis" [Orphanet:11900]
UMLS:C0008925 "Cleft Palate" [Orphanet:11900]
Is a (Direct Parents):
HPO         Cleft secondary palate
HPO         Oral cleft
Orphanet Abnormality of the palate
HPO         Abnormality of the hard palate
HPO         Cleft primary palate
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of head or neck(HPO:0000152)
          Abnormality of the head(HPO:0000234)
             Abnormality of the face(HPO:0000271)
                Abnormality of the mouth(HPO:0000153)
                   Oral cleft(HPO:0000202)
                      Cleft palate(HPO:0000175)
                   Abnormality of the oral cavity(HPO:0000163)
                      Abnormality of the palate(HPO:0000174)
                         Abnormality of the hard palate(HPO:0100737)
                            Cleft palate(HPO:0000175)
MedDRA:
Database Frequency: 349 / 7739
Resource:

All diseases associated with this symptom:

1p36 deletion syndrome (Orphanet:1606)
1q41q42 microdeletion syndrome (Orphanet:250999)
22q11.2 deletion syndrome (Orphanet:567)
2q32q33 microdeletion syndrome (Orphanet:251019)
3C syndrome (Orphanet:7)
3MC SYNDROME 1 (OMIM:257920)
3MC SYNDROME 2 (OMIM:265050)
3MC SYNDROME 3 (OMIM:248340)
48,XXYY syndrome (Orphanet:10)
AARSKOG-SCOTT SYNDROME (OMIM:305400)
ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 (OMIM:170995)
AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Aarskog-Scott syndrome (Orphanet:915)
Aase-Smith syndrome (Orphanet:916)
Abruzzo-Erickson syndrome (Orphanet:921)
Achondrogenesis type 2 (Orphanet:93296)
Acro-cardio-facial syndrome (Orphanet:2008)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Acrocallosal syndrome (Orphanet:36)
Acrocraniofacial dysostosis (Orphanet:949)
Acromelic frontonasal dysplasia (Orphanet:1827)
Adams-Oliver syndrome (Orphanet:974)
Adducted thumbs - arthrogryposis, Christian type (Orphanet:2952)
Agnathia - holoprosencephaly - situs inversus (Orphanet:990)
Aicardi syndrome (Orphanet:50)
Aneurysm - osteoarthritis syndrome (Orphanet:284984)
Ankyloblepharon - ectodermal defects - cleft lip/palate (Orphanet:1071)
Ankyloblepharon filiforme adnatum - cleft palate (Orphanet:1072)
Apert syndrome (Orphanet:87)
Atelosteogenesis type I (Orphanet:1190)
Atelosteogenesis type II (Orphanet:56304)
Atelosteogenesis type III (Orphanet:56305)
Auriculocondylar syndrome (Orphanet:137888)
Autosomal dominant Larsen syndrome (Orphanet:503)
Autosomal dominant Opitz G/BBB syndrome (Orphanet:306588)
Autosomal dominant multiple pterygium syndrome (Orphanet:65743)
Autosomal dominant popliteal pterygium syndrome (Orphanet:1300)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (Orphanet:331176)
BARATELA-SCOTT SYNDROME (OMIM:300881)
BOR syndrome (Orphanet:107)
BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY (OMIM:601357)
BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
BRESEK syndrome (Orphanet:85284)
Baller-Gerold syndrome (Orphanet:1225)
Bamforth syndrome (Orphanet:1226)
Bardet-Biedl syndrome 3 (OMIM:600151)
Bartsocas-Papas syndrome (Orphanet:1234)
Beckwith-Wiedemann syndrome due to 11p15 microdeletion (Orphanet:231127)
Beckwith-Wiedemann syndrome due to CDKN1C mutation (Orphanet:231120)
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 (Orphanet:231117)
Bilateral microtia - deafness - cleft palate (Orphanet:140963)
Blackfan-Diamond anemia (Orphanet:124)
Bohring-Opitz syndrome (Orphanet:97297)
Branchio-oculo-facial syndrome (Orphanet:1297)
CAMPOMELIC DYSPLASIA (OMIM:114290)
CARDIAC MALFORMATION, CLEFT LIP/PALATE, MICROCEPHALY AND DIGITAL ANOMALIES (OMIM:600987)
CATEL-MANZKE SYNDROME (OMIM:616145)
CHARGE syndrome (Orphanet:138)
CHROMOSOME 15q11.2 DELETION SYNDROME (OMIM:615656)
CHROMOSOME 15q25 DELETION SYNDROME (OMIM:614294)
CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
COFFIN-SIRIS SYNDROME (OMIM:135900)
CORNELIA DE LANGE SYNDROME 4 (OMIM:614701)
CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
CULLER-JONES SYNDROME (OMIM:615849)
Campomelic dysplasia (Orphanet:140)
Cantrell pentalogy (Orphanet:1335)
Cardiodysrhythmic potassium-sensitive periodic paralysis (Orphanet:37553)
Carey-Fineman-Ziter syndrome (Orphanet:1358)
Cat-eye syndrome (Orphanet:195)
Catel-Manzke syndrome (Orphanet:1388)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Cerebro-oculo-nasal syndrome (Orphanet:66625)
Choanal atresia - deafness - cardiac defects - dysmorphism (Orphanet:1200)
Cholestasis - pigmentary retinopathy - cleft palate (Orphanet:1415)
Cleft palate (Orphanet:2014)
Cleft palate - large ears - small head (Orphanet:2013)
Cleft palate-lateral synechia syndrome (Orphanet:2016)
Cleidocranial dysplasia (Orphanet:1452)
Coffin-Siris syndrome (Orphanet:1465)
Constriction rings syndrome (Orphanet:295000)
Cornelia de Lange syndrome (Orphanet:199)
Coxo-podo-patellar syndrome (Orphanet:1509)
Craniofacial-ulnar-renal syndrome (Orphanet:293843)
Craniofrontonasal dysplasia (Orphanet:1520)
Craniolenticulosutural dysplasia (Orphanet:50814)
Craniosynostosis - anal anomalies - porokeratosis (Orphanet:85199)
DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA (OMIM:221950)
DIAMOND-BLACKFAN ANEMIA 1 (OMIM:105650)
DIAMOND-BLACKFAN ANEMIA 10 (OMIM:613309)
DIAMOND-BLACKFAN ANEMIA 11 (OMIM:614900)
DIAMOND-BLACKFAN ANEMIA 6 (OMIM:612561)
DIGEORGE SYNDROME (OMIM:188400)
DISORGANIZATION, MOUSE, HOMOLOG OF (OMIM:223200)
Desmosterolosis (Orphanet:35107)
Developmental malformations - deafness - dystonia (Orphanet:79107)
Diabetic embryopathy (Orphanet:1926)
Diaphanospondylodysostosis (Orphanet:66637)
Diastrophic dwarfism (Orphanet:628)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Distal arthrogryposis type 5D (Orphanet:329457)
Distal limb deficiencies - micrognathia syndrome (Orphanet:1307)
Dysmorphism - conductive hearing loss - heart defect (Orphanet:289553)
Dyssegmental dysplasia - glaucoma (Orphanet:1804)
Dyssegmental dysplasia, Rolland-Desbuquois type (Orphanet:156731)
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME1 (OMIM:129900)
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME3 (OMIM:604292)
ECTRODACTYLY-CLEFT PALATE SYNDROME (OMIM:129830)
EEC syndrome (Orphanet:1896)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 (OMIM:601776)
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2 (OMIM:615349)
EVC2 GENE (OMIM:607261)
Ear-patella-short stature syndrome (Orphanet:2554)
Ehlers-Danlos syndrome, musculocontractural type (Orphanet:2953)
Emanuel syndrome (Orphanet:96170)
Endocrine-cerebro-osteodysplasia syndrome (Orphanet:199332)
FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
FETAL AKINESIA DEFORMATION SEQUENCE (OMIM:208150)
FIBROCHONDROGENESIS 1 (OMIM:228520)
Faciocardiorenal syndrome (Orphanet:1973)
Familial gastric cancer (Orphanet:26106)
Femoral-facial syndrome (Orphanet:1988)
Fetal akinesia deformation sequence (Orphanet:994)
Fibrochondrogenesis (Orphanet:2021)
Fine-Lubinsky syndrome (Orphanet:1272)
Focal dermal hypoplasia (Orphanet:2092)
Fraser syndrome (Orphanet:2052)
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome (Orphanet:306542)
Fryns syndrome (Orphanet:2059)
Genito-palato-cardiac syndrome (Orphanet:2075)
Goldenhar syndrome (Orphanet:374)
Gordon syndrome (Orphanet:376)
Gorlin syndrome (Orphanet:377)
HYDROLETHALUS SYNDROME 1 (OMIM:236680)
HYDROLETHALUS SYNDROME 2 (OMIM:614120)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1 (OMIM:239300)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA (OMIM:614880)
HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA (OMIM:244200)
HYPOTHALAMIC HAMARTOMASCONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED (OMIM:241800)
Hartsfield-Bixler-Demyer syndrome (Orphanet:2117)
Holzgreve-Wagner-Rehder syndrome (Orphanet:2167)
Humerus trochlea aplasia (Orphanet:3383)
Hydrolethalus (Orphanet:2189)
Hyperphosphatasia-intellectual deficiency syndrome (Orphanet:247262)
Hypertelorism-microtia-facial clefting syndrome (Orphanet:2213)
Hypochondrogenesis (Orphanet:93297)
Ichthyosis follicularis - alopecia - photophobia (Orphanet:2273)
Intellectual deficit, X-linked - craniofacioskeletal syndrome (Orphanet:163979)
Intellectual deficit, X-linked, Armfield type (Orphanet:85276)
Intellectual deficit, X-linked, Snyder type (Orphanet:3063)
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome (Orphanet:363611)
Isolated Klippel-Feil syndrome (Orphanet:2345)
Isolated Pierre Robin syndrome (Orphanet:718)
Isotretinoin-like syndrome (Orphanet:2306)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome 21 (OMIM:615636)
Joubert syndrome with orofaciodigital defect (Orphanet:2754)
KABUKI SYNDROME 1 (OMIM:147920)
KABUKI SYNDROME 2 (OMIM:300867)
KERATOCONUS POSTICUS CIRCUMSCRIPTUS (OMIM:244600)
KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Kabuki syndrome (Orphanet:2322)
Kallmann syndrome (Orphanet:478)
Kapur-Toriello syndrome (Orphanet:2328)
Kniest dysplasia (Orphanet:485)
Koolen-De Vries syndrome (Orphanet:96169)
Kyphomelic dysplasia (Orphanet:1801)
LEOPARD SYNDROME 1 (OMIM:151100)
LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
Larsen-like osseous dysplasia - short stature (Orphanet:2370)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Late-onset localized junctional epidermolysis bullosa - intellectual deficit (Orphanet:231556)
Lethal Kniest-like dysplasia (Orphanet:2347)
Lethal multiple pterygium syndrome (Orphanet:33108)
Lethal omphalocele-cleft palate syndrome (Orphanet:2736)
Lethal osteosclerotic bone dysplasia (Orphanet:1832)
Lethal polymalformative syndrome, Boissel type (Orphanet:210144)
Lethal restrictive dermopathy (Orphanet:1662)
Leukoencephalopathy - thalamus and brainstem anomalies - high lactate (Orphanet:314051)
Limb-mammary syndrome (Orphanet:69085)
Loeys-Dietz syndrome type 1 (Orphanet:60030)
Lowry-MacLean syndrome (Orphanet:2409)
Lymphedema - distichiasis (Orphanet:33001)
MEGAEPIPHYSEAL DWARFISM (OMIM:249230)
MEIER-GORLIN SYNDROME 1 (OMIM:224690)
MICROCEPHALY, CORPUS CALLOSUM DYSGENESIS, AND CLEFT LIP/PALATE (OMIM:601420)
MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES (OMIM:607597)
MICROPHTHALMIA, SYNDROMIC 11 (OMIM:614402)
MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM (OMIM:601016)
MMEP syndrome (Orphanet:3434)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
MURCS association (Orphanet:2578)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 14 (OMIM:615350)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET (OMIM:614399)
Macular coloboma - cleft palate - hallux valgus (Orphanet:91494)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
Marden-Walker syndrome (Orphanet:2461)
Marshall syndrome (Orphanet:560)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 1 (OMIM:249000)
Meckel syndrome, type 2 (OMIM:603194)
Meckel syndrome, type 3 (OMIM:607361)
Meckel syndrome, type 4 (OMIM:611134)
Meckel syndrome, type 5 (OMIM:611561)
Meckel syndrome, type 6 (OMIM:612284)
Meckel syndrome, type 8 (OMIM:613885)
Meige disease (Orphanet:90186)
Mesomelic dwarfism - cleft palate - camptodactyly (Orphanet:2631)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Microcephaly - cardiac defect - lung malsegmentation (Orphanet:2516)
Microcephaly-capillary malformation syndrome (Orphanet:294016)
Microphthalmia - ankyloblepharon - intellectual deficit (Orphanet:85275)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Microphthalmia with limb anomalies (Orphanet:1106)
Miller-Dieker syndrome (Orphanet:531)
Monosomy 18q (Orphanet:1600)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mowat-Wilson syndrome (Orphanet:2152)
Mulibrey nanism (Orphanet:2576)
Mullerian derivatives - lymphangiectasia - polydactyly (Orphanet:1655)
Multiple benign circumferential skin creases on limbs (Orphanet:2505)
Multiple epiphyseal dysplasia, Lowry type (Orphanet:166016)
Muscle-eye-brain disease (Orphanet:588)
NEMALINE MYOPATHY 2 (OMIM:256030)
NEMALINE MYOPATHY 9 (OMIM:615731)
NEU-LAXOVA SYNDROME 2 (OMIM:616038)
Nager syndrome (Orphanet:245)
Nail-patella syndrome (Orphanet:2614)
Native American myopathy (Orphanet:168572)
Neu-Laxova syndrome (Orphanet:2671)
Neuralgic amyotrophy (Orphanet:2901)
Neuroectodermal syndrome, Johnson type (Orphanet:2316)
Nijmegen breakage syndrome (Orphanet:647)
Noonan syndrome with multiple lentigines (Orphanet:500)
OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
OROFACIAL CLEFT 1 (OMIM:119530)
OROFACIAL CLEFT 5 (OMIM:608874)
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO (OMIM:608864)
OROFACIODIGITAL SYNDROME VI (OMIM:277170)
OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Oculo-palato-cerebral syndrome (Orphanet:2714)
Oculoauriculovertebral spectrum with radial defects (Orphanet:2549)
Oculocerebrocutaneous syndrome (Orphanet:1647)
Oculodentodigital dysplasia (Orphanet:2710)
Oculofaciocardiodental syndrome (Orphanet:2712)
Opitz G/BBB syndrome (Orphanet:2745)
Orofaciodigital syndrome type 1 (Orphanet:2750)
Orofaciodigital syndrome type 10 (Orphanet:2756)
Orofaciodigital syndrome type 11 (Orphanet:141000)
Orofaciodigital syndrome type 2 (Orphanet:2751)
Orofaciodigital syndrome type 4 (Orphanet:2753)
Orofaciodigital syndrome type 5 (Orphanet:2919)
Orofaciodigital syndrome type 8 (Orphanet:2755)
Orofaciodigital syndrome type 9 (Orphanet:141007)
Osteodysplasty, Melnick-Needles type (Orphanet:2484)
Osteopathia striata - cranial sclerosis (Orphanet:2780)
Otopalatodigital syndrome (Orphanet:669)
Otopalatodigital syndrome type 1 (Orphanet:90650)
Otopalatodigital syndrome type 2 (Orphanet:90652)
Otospondylomegaepiphyseal dysplasia (Orphanet:1427)
PALANT CLEFT PALATE SYNDROME (OMIM:260150)
PARC syndrome (Orphanet:2825)
PARIETAL FORAMINA (OMIM:168500)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) (OMIM:614866)
PGM1-CDG (Orphanet:319646)
PIERRE ROBIN SEQUENCE WITH PECTUS EXCAVATUM AND RIB AND SCAPULAR ANOMALIES (OMIM:602196)
Parietal foramina (Orphanet:60015)
Patterson-Stevenson-Fontaine syndrome (Orphanet:2439)
Pelviscapular dysplasia (Orphanet:93333)
Peters-plus syndrome (Orphanet:709)
Pierre Robin syndrome - faciodigital anomaly (Orphanet:2888)
Postaxial acrofacial dysostosis (Orphanet:246)
Pseudoaminopterin syndrome (Orphanet:221120)
RADIUS, APLASIA OF, WITH CLEFT LIP/PALATE (OMIM:179400)
RAPADILINO syndrome (Orphanet:3021)
RAPP-HODGKIN SYNDROME (OMIM:129400)
RIENHOFF SYNDROME (OMIM:615582)
ROBERTS SYNDROME (OMIM:268300)
Renpenning syndrome (Orphanet:3242)
Retinoblastoma (Orphanet:790)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic chondrodysplasia punctata type 1 (Orphanet:309789)
Richieri Costa-Pereira syndrome (Orphanet:3102)
Roberts syndrome (Orphanet:3103)
Robin sequence - oligodactyly (Orphanet:3104)
Rosselli-Gulienetti syndrome (Orphanet:90339)
SECKEL SYNDROME 1 (OMIM:210600)
SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIB (OMIM:615087)
SHORT STATURE AND FACIOAURICULOTHORACIC MALFORMATIONS (OMIM:609654)
STICKLER SYNDROME, TYPE I (OMIM:108300)
Saethre-Chotzen syndrome (Orphanet:794)
Schilbach-Rott syndrome (Orphanet:2353)
Schneckenbecken dysplasia (Orphanet:3144)
Seckel syndrome (Orphanet:808)
Short rib-polydactyly syndrome, Majewski type (Orphanet:93269)
Short-rib thoracic dysplasia 3 with or without polydactyly (OMIM:613091)
Simpson-Golabi-Behmel syndrome (Orphanet:373)
Simpson-Golabi-Behmel syndrome type 2 (Orphanet:79022)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Split hand-split foot malformation (Orphanet:2440)
Spondylocarpotarsal synostosis (Orphanet:3275)
Spondyloepimetaphyseal dysplasia congenita, Strudwick type (Orphanet:93346)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Spondyloepiphyseal dysplasia congenita (Orphanet:94068)
Stickler syndrome (Orphanet:828)
Stickler syndrome type 2 (Orphanet:90654)
Stickler syndrome type 3 (Orphanet:166100)
Syndromic microphthalmia type 5 (Orphanet:178364)
TARP syndrome (Orphanet:2886)
TEMPLE SYNDROME (OMIM:616222)
TMCO1 defect syndrome (Orphanet:228407)
TREACHER COLLINS SYNDROME 1 (OMIM:154500)
TREACHER COLLINS SYNDROME 2 (OMIM:613717)
TREACHER COLLINS SYNDROME 3 (OMIM:248390)
Temtamy preaxial brachydactyly syndrome (Orphanet:363417)
Terminal transverse defects of arm (Orphanet:93937)
Tessier number 4 facial cleft (Orphanet:141258)
Tetraamelia - multiple malformations (Orphanet:3301)
Tetrasomy 12p (Orphanet:884)
Tricho-oculo-dermo-vertebral syndrome (Orphanet:3354)
Uveal coloboma - cleft lip and palate - intellectual deficit (Orphanet:1473)
VAN DER WOUDE SYNDROME 1 (OMIM:119300)
VAN DER WOUDE SYNDROME 2 (OMIM:606713)
VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Van den Ende-Gupta syndrome (Orphanet:2460)
Van der Woude syndrome (Orphanet:888)
Vici syndrome (Orphanet:1493)
WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME (OMIM:602418)
Weissenbacher- Zweymuller syndrome (Orphanet:3450)
Wolf-Hirschhorn syndrome (Orphanet:280)
X-linked Opitz G/BBB syndrome (Orphanet:306597)
X-linked cleft palate and ankyloglossia (Orphanet:324601)
X-linked lethal multiple pterygium syndrome (Orphanet:79447)
Zechi-Ceide syndrome (Orphanet:217017)
Zlotogora-Ogur syndrome (Orphanet:3253)
Zunich-Kaye syndrome (Orphanet:3474)