Abnormality of the mandible
Symptom Information:
| Symptom ID: | HPO:0000277 | ||||||||||||
| Synonyms: |
|
||||||||||||
| Quality: | |||||||||||||
| Cross references: |
|
||||||||||||
| Is a (Direct Parents): |
|
||||||||||||
| Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the skeletal system(HPO:0000924) Abnormality of skeletal morphology(HPO:0011842) Abnormal axial skeleton morphology(HPO:0009121) Abnormality of the skull(HPO:0000929) Abnormality of facial skeleton(HPO:0011821) Abnormality of the mandible(HPO:0000277) Abnormality of head or neck(HPO:0000152) Abnormality of the head(HPO:0000234) Abnormality of the skull(HPO:0000929) Abnormality of facial skeleton(HPO:0011821) Abnormality of the mandible(HPO:0000277) MedDRA: |
||||||||||||
| Database Frequency: | 394 / 7739 | ||||||||||||
| Resource: |
All diseases associated with this symptom:
| 10q22.3q23.3 microdeletion syndrome | (Orphanet:276413) |
| 10q22.3q23.3 microduplication syndrome | (Orphanet:276422) |
| 12q14 microdeletion syndrome | (Orphanet:94063) |
| 14q11.2 microdeletion syndrome | (Orphanet:261120) |
| 14q22q23 microdeletion syndrome | (Orphanet:264200) |
| 16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
| 16q24.3 microdeletion syndrome | (Orphanet:261250) |
| 17p11.2 microduplication syndrome | (Orphanet:1713) |
| 17q21.31 microduplication syndrome | (Orphanet:217340) |
| 19q13.11 microdeletion syndrome | (Orphanet:217346) |
| 1p36 deletion syndrome | (Orphanet:1606) |
| 1q44 microdeletion syndrome | (Orphanet:238769) |
| 22q11.2 deletion syndrome | (Orphanet:567) |
| 22q11.2 microduplication syndrome | (Orphanet:1727) |
| 2p15p16.1 microdeletion syndrome | (Orphanet:261349) |
| 2q31.1 microdeletion syndrome | (Orphanet:251014) |
| 2q32q33 microdeletion syndrome | (Orphanet:251019) |
| 3-hydroxyisobutyric aciduria | (Orphanet:939) |
| 3C syndrome | (Orphanet:7) |
| 48,XXXY syndrome | (Orphanet:96263) |
| 48,XXYY syndrome | (Orphanet:10) |
| 49,XXXXY syndrome | (Orphanet:96264) |
| 6q16 deletion syndrome | (Orphanet:171829) |
| 6q25 microdeletion syndrome | (Orphanet:251056) |
| 8p11.2 deletion syndrome | (Orphanet:251066) |
| 8q21.11 microdeletion syndrome | (Orphanet:284160) |
| Achalasia - microcephaly | (Orphanet:929) |
| Achondrogenesis | (Orphanet:932) |
| Achondrogenesis type 1A | (Orphanet:93299) |
| Achondrogenesis type 1B | (Orphanet:93298) |
| Achondrogenesis type 2 | (Orphanet:93296) |
| Acro-oto-ocular syndrome | (Orphanet:2980) |
| Acro-renal-mandibular syndrome | (Orphanet:958) |
| Acrocraniofacial dysostosis | (Orphanet:949) |
| Acrofacial dysostosis, Catania type | (Orphanet:1786) |
| Acrofacial dysostosis, Palagonia type | (Orphanet:1787) |
| Acrofacial dysostosis, Rodriguez type | (Orphanet:1788) |
| Acrogeria | (Orphanet:2500) |
| Acromegaloid facial appearance syndrome | (Orphanet:965) |
| Acromegaly | (Orphanet:963) |
| Acroosteolysis, dominant type | (Orphanet:955) |
| Acrorenal syndrome | (Orphanet:971) |
| Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia | (Orphanet:52055) |
| Alagille syndrome | (Orphanet:52) |
| Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 | (Orphanet:98791) |
| Aminopterin/methotrexate embryofetopathy | (Orphanet:1908) |
| Amish lethal microcephaly | (Orphanet:99742) |
| Aniridia - renal agenesis - psychomotor retardation | (Orphanet:1064) |
| Ankyloblepharon - ectodermal defects - cleft lip/palate | (Orphanet:1071) |
| Arachnodactyly - abnormal ossification - intellectual deficit | (Orphanet:1129) |
| Arthrogryposis multiplex congenita - whistling face | (Orphanet:1150) |
| Atrioventricular defect - blepharophimosis -radial defects | (Orphanet:1352) |
| Autosomal dominant Robinow syndrome | (Orphanet:3107) |
| Autosomal dominant omodysplasia | (Orphanet:93328) |
| Autosomal dominant osteosclerosis, Worth type | (Orphanet:2790) |
| Autosomal dominant popliteal pterygium syndrome | (Orphanet:1300) |
| Autosomal recessive Robinow syndrome | (Orphanet:1507) |
| Autosomal recessive amelia | (Orphanet:1027) |
| Autosomal recessive facio-digito-genital syndrome | (Orphanet:1974) |
| Autosomal recessive multiple pterygium syndrome | (Orphanet:2990) |
| Autosomal recessive omodysplasia | (Orphanet:93329) |
| Autosomal recessive polycystic kidney disease | (Orphanet:731) |
| Axial mesodermal dysplasia spectrum | (Orphanet:1834) |
| BOR syndrome | (Orphanet:107) |
| Baller-Gerold syndrome | (Orphanet:1225) |
| Bamforth syndrome | (Orphanet:1226) |
| Bannayan-Riley-Ruvalcaba syndrome | (Orphanet:109) |
| Baraitser-Winter syndrome | (Orphanet:2995) |
| Bartsocas-Papas syndrome | (Orphanet:1234) |
| Beemer-Ertbruggen syndrome | (Orphanet:1237) |
| Bilateral renal agenesis | (Orphanet:1848) |
| Bird headed-dwarfism, Montreal type | (Orphanet:2617) |
| Blepharophimosis-intellectual deficit syndrome, Ohdo type | (Orphanet:2728) |
| Blepharophimosis-intellectual deficit syndrome, SBBYS type | (Orphanet:3047) |
| Bohring-Opitz syndrome | (Orphanet:97297) |
| Bonnemann-Meinecke-Reich syndrome | (Orphanet:1261) |
| Bowen-Conradi syndrome | (Orphanet:1270) |
| Brachydactyly - mesomelia - intellectual deficit - heart defects | (Orphanet:1277) |
| Brachydactyly - preaxial hallux varus | (Orphanet:1278) |
| Braddock syndrome | (Orphanet:52047) |
| Branchio-otic syndrome | (Orphanet:52429) |
| C syndrome | (Orphanet:1308) |
| COFS syndrome | (Orphanet:1466) |
| Campomelic dysplasia | (Orphanet:140) |
| Camptodactyly - joint contractures - facial skeletal defects | (Orphanet:1323) |
| Cardiocranial syndrome, Pfeiffer type | (Orphanet:2872) |
| Carey-Fineman-Ziter syndrome | (Orphanet:1358) |
| Cartilage-hair hypoplasia | (Orphanet:175) |
| Cataract - intellectual deficit - hypogonadism | (Orphanet:1387) |
| Catel-Manzke syndrome | (Orphanet:1388) |
| Caudal appendage - deafness | (Orphanet:1123) |
| Cenani-Lenz syndrome | (Orphanet:3258) |
| Cerebro-costo-mandibular syndrome | (Orphanet:1393) |
| Cernunnos-XLF deficiency | (Orphanet:169079) |
| Charlie M syndrome | (Orphanet:1406) |
| Cherubism | (Orphanet:184) |
| Chondrodysplasia, Blomstrand type | (Orphanet:50945) |
| Cleft lip/palate - intestinal malrotation - cardiopathy | (Orphanet:2001) |
| Cleft palate - large ears - small head | (Orphanet:2013) |
| Cleft palate - short stature - vertebral anomalies | (Orphanet:2015) |
| Cleft palate-lateral synechia syndrome | (Orphanet:2016) |
| Cloverleaf skull - multiple congenital anomalies | (Orphanet:93267) |
| Cohen syndrome | (Orphanet:193) |
| Cole-Carpenter syndrome | (Orphanet:2050) |
| Congenital cataracts - facial dysmorphism - neuropathy | (Orphanet:48431) |
| Congenital unilateral hypoplasia of depressor anguli oris | (Orphanet:1166) |
| Corneal-cerebellar syndrome | (Orphanet:3177) |
| Cornelia de Lange syndrome | (Orphanet:199) |
| Cortical blindness - intellectual deficit - polydactyly | (Orphanet:1389) |
| Crane-Heise syndrome | (Orphanet:1512) |
| Craniodiaphyseal dysplasia | (Orphanet:1513) |
| Craniofacial dyssynostosis | (Orphanet:1516) |
| Craniomicromelic syndrome | (Orphanet:1524) |
| Craniosynostosis - Dandy-Walker malformation - hydrocephalus | (Orphanet:1538) |
| Craniosynostosis - anal anomalies - porokeratosis | (Orphanet:85199) |
| Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis | (Orphanet:171839) |
| Craniosynostosis, Herrmann-Opitz type | (Orphanet:2145) |
| Cutis laxa | (Orphanet:209) |
| Cutis marmorata telangiectatica congenita | (Orphanet:1556) |
| Cystic fibrosis - gastritis - megaloblastic anemia | (Orphanet:2575) |
| DPAGT1-CDG | (Orphanet:86309) |
| Deafness - intellectual deficit, Martin-Probst type | (Orphanet:85321) |
| Deafness with labyrinthine aplasia, microtia, and microdontia | (Orphanet:90024) |
| Desmosterolosis | (Orphanet:35107) |
| Diabetic embryopathy | (Orphanet:1926) |
| Diastrophic dwarfism | (Orphanet:628) |
| Distal 22q11.2 microduplication syndrome | (Orphanet:261337) |
| Distal limb deficiencies - micrognathia syndrome | (Orphanet:1307) |
| Distal monosomy 10p | (Orphanet:1580) |
| Distal monosomy 3p | (Orphanet:1620) |
| Distal monosomy 6p | (Orphanet:96125) |
| Distal monosomy 7q36 | (Orphanet:1636) |
| Distal trisomy 15q | (Orphanet:1707) |
| Distal trisomy 18q | (Orphanet:1716) |
| Distal trisomy 6p | (Orphanet:1745) |
| Duane retraction syndrome | (Orphanet:233) |
| Dubowitz syndrome | (Orphanet:235) |
| Dysmorphism - cleft palate - loose skin | (Orphanet:1779) |
| Dysmorphism - short stature - deafness - disorder of sex development | (Orphanet:2282) |
| Dyssegmental dysplasia, Silverman-Handmaker type | (Orphanet:1865) |
| Ear-patella-short stature syndrome | (Orphanet:2554) |
| Ectodermal dysplasia - intellectual deficit - central nervous system malformation | (Orphanet:1812) |
| Ectrodactyly - spina bifida - cardiopathy | (Orphanet:1894) |
| Edinburgh malformation syndrome | (Orphanet:1895) |
| Ehlers-Danlos syndrome, arthrochalasic type | (Orphanet:1899) |
| Ehlers-Danlos syndrome, dermatosparaxis type | (Orphanet:1901) |
| Ehlers-Danlos syndrome, periodontitis type | (Orphanet:75392) |
| Endomyocardial fibroelastosis | (Orphanet:2022) |
| Extrasystoles - short stature - hyperpigmentation - microcephaly | (Orphanet:1964) |
| Fallot complex - intellectual deficit - growth delay | (Orphanet:3304) |
| Familial visceral myopathy | (Orphanet:2604) |
| Fanconi anemia | (Orphanet:84) |
| Feingold syndrome | (Orphanet:1305) |
| Femoral-facial syndrome | (Orphanet:1988) |
| Fetal akinesia deformation sequence | (Orphanet:994) |
| Fetal alcohol syndrome | (Orphanet:1915) |
| Fetal minoxidil syndrome | (Orphanet:1918) |
| Fetal trimethadione syndrome | (Orphanet:1913) |
| Fibulo-ulnar hypoplasia - renal anomalies | (Orphanet:2256) |
| Flat face - microstomia - ear anomaly | (Orphanet:1968) |
| Frontometaphyseal dysplasia | (Orphanet:1826) |
| Fryns syndrome | (Orphanet:2059) |
| Fryns-Smeets-Thiry syndrome | (Orphanet:2058) |
| GAPO syndrome | (Orphanet:2067) |
| Galloway-Mowat syndrome | (Orphanet:2065) |
| Genito-palato-cardiac syndrome | (Orphanet:2075) |
| Genitopatellar syndrome | (Orphanet:85201) |
| German syndrome | (Orphanet:2077) |
| Gnathodiaphyseal dysplasia | (Orphanet:53697) |
| Goldblatt syndrome | (Orphanet:166272) |
| Goldenhar syndrome | (Orphanet:374) |
| Gorlin syndrome | (Orphanet:377) |
| Grant syndrome | (Orphanet:2097) |
| Greenberg dysplasia | (Orphanet:1426) |
| Grix-Blankenship-Peterson syndrome | (Orphanet:2099) |
| Growth delay - hydrocephaly - lung hypoplasia | (Orphanet:3035) |
| Hallermann-Streiff syndrome | (Orphanet:2108) |
| Hamel cerebro-palato-cardiac syndrome | (Orphanet:93946) |
| Hennekam syndrome | (Orphanet:2136) |
| Hennekam-Beemer syndrome | (Orphanet:2135) |
| Hidrotic ectodermal dysplasia, Halal type | (Orphanet:1809) |
| Hirschsprung disease - nail hypoplasia - dysmorphism | (Orphanet:2153) |
| Hirsutism - skeletal dysplasia - intellectual deficit | (Orphanet:2156) |
| Holoprosencephaly - postaxial polydactyly | (Orphanet:2166) |
| Hutchinson-Gilford progeria syndrome | (Orphanet:740) |
| Hydrolethalus | (Orphanet:2189) |
| Hyperostosis corticalis generalisata | (Orphanet:3416) |
| Hypertrichosis cubiti - short stature | (Orphanet:2220) |
| Hypoglossia - hypodactyly | (Orphanet:989) |
| Hypotonia - cystinuria syndrome | (Orphanet:163690) |
| ICF syndrome | (Orphanet:2268) |
| Infantile spasms - broad thumbs | (Orphanet:3173) |
| Intellectual deficit - hypoplastic corpus callosum - preauricular tag | (Orphanet:1495) |
| Intellectual deficit - polydactyly - uncombable hair | (Orphanet:3082) |
| Intellectual deficit, Wolff type | (Orphanet:3080) |
| Intellectual deficit, X-linked - dysmorphism - cerebral atrophy | (Orphanet:2958) |
| Intellectual deficit, X-linked, Armfield type | (Orphanet:85276) |
| Isolated Pierre Robin syndrome | (Orphanet:718) |
| Isotretinoin syndrome | (Orphanet:2305) |
| Isotretinoin-like syndrome | (Orphanet:2306) |
| Jacobsen syndrome | (Orphanet:2308) |
| Juvenile rheumatoid factor-positive polyarthritis | (Orphanet:85435) |
| Kenny-Caffey syndrome | (Orphanet:2333) |
| Kniest dysplasia | (Orphanet:485) |
| Kousseff syndrome | (Orphanet:2351) |
| Kozlowski-Brown-Hardwick syndrome | (Orphanet:2352) |
| Kyphomelic dysplasia | (Orphanet:1801) |
| LIG4 syndrome | (Orphanet:99812) |
| Lacrimo-auriculo-dento-digital syndrome | (Orphanet:2363) |
| Laron syndrome | (Orphanet:633) |
| Lateral meningocele syndrome | (Orphanet:2789) |
| Lathosterolosis | (Orphanet:46059) |
| Lethal congenital contracture syndrome type 1 | (Orphanet:1486) |
| Lethal faciocardiomelic dysplasia | (Orphanet:1972) |
| Lethal hemolytic anemia - genital anomalies | (Orphanet:1046) |
| Lethal multiple pterygium syndrome | (Orphanet:33108) |
| Lethal osteosclerotic bone dysplasia | (Orphanet:1832) |
| Lethal restrictive dermopathy | (Orphanet:1662) |
| Leukocyte adhesion deficiency | (Orphanet:2968) |
| Lipodystrophy due to peptidic growth factors deficiency | (Orphanet:1979) |
| Loeys-Dietz syndrome type 1 | (Orphanet:60030) |
| Lowry-MacLean syndrome | (Orphanet:2409) |
| Malignant hyperthermia - arthrogryposis - torticollis | (Orphanet:2215) |
| Mandibuloacral dysplasia | (Orphanet:2457) |
| Mandibulofacial dysostosis-microcephaly syndrome | (Orphanet:79113) |
| Marden-Walker syndrome | (Orphanet:2461) |
| Marfan syndrome | (Orphanet:558) |
| Marfanoid habitus - intellectual deficit, autosomal recessive | (Orphanet:2463) |
| Marshall syndrome | (Orphanet:560) |
| Marshall-Smith syndrome | (Orphanet:561) |
| McDonough syndrome | (Orphanet:2471) |
| Meckel syndrome | (Orphanet:564) |
| Megalocornea-intellectual deficit syndrome | (Orphanet:2479) |
| Mesomelia-synostoses syndrome | (Orphanet:2496) |
| Mesomelic dwarfism - cleft palate - camptodactyly | (Orphanet:2631) |
| Metaphyseal chondrodysplasia, Jansen type | (Orphanet:33067) |
| Metaphyseal chondrodysplasia, Schmid type | (Orphanet:174) |
| Metaphyseal dysplasia - maxillary hypoplasia - brachydacty | (Orphanet:2504) |
| Micro syndrome | (Orphanet:2510) |
| Microcephalic osteodysplastic primordial dwarfism type 2 | (Orphanet:2637) |
| Microcephalic osteodysplastic primordial dwarfism types 1 and 3 | (Orphanet:2636) |
| Microcephaly - cardiac defect - lung malsegmentation | (Orphanet:2516) |
| Microcephaly - cervical spine fusion anomalies | (Orphanet:2522) |
| Microcephaly - cleft palate | (Orphanet:2521) |
| Microcephaly - deafness - intellectual deficit | (Orphanet:2533) |
| Microcephaly-albinism-digital anomalies | (Orphanet:2513) |
| Microcephaly-microcornea syndrome, Seemanova type | (Orphanet:2528) |
| Microphthalmia - microtia - fetal akinesia | (Orphanet:2547) |
| Microphthalmia with limb anomalies | (Orphanet:1106) |
| Microphthalmia with linear skin defects syndrome | (Orphanet:2556) |
| Mikati-Najjar-Sahli syndrome | (Orphanet:2558) |
| Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
| Moebius syndrome | (Orphanet:570) |
| Monosomy 13q14 | (Orphanet:1587) |
| Monosomy 18p | (Orphanet:1598) |
| Monosomy 5p | (Orphanet:281) |
| Monosomy 9p | (Orphanet:261112) |
| Morse-Rawnsley-Sargent syndrome | (Orphanet:2570) |
| Mosaic trisomy 14 | (Orphanet:1703) |
| Mosaic trisomy 8 | (Orphanet:96061) |
| Mosaic trisomy 9 | (Orphanet:99776) |
| Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
| Mullerian derivatives - lymphangiectasia - polydactyly | (Orphanet:1655) |
| Multicentric carpo-tarsal osteolysis with or without nephropathy | (Orphanet:2774) |
| Multiple benign circumferential skin creases on limbs | (Orphanet:2505) |
| Multiple epiphyseal dysplasia, Lowry type | (Orphanet:166016) |
| Mycophenolate mofetil embryopathy | (Orphanet:268249) |
| Myotonia permanens | (Orphanet:99735) |
| Nager syndrome | (Orphanet:245) |
| Nephrogenic diabetes insipidus - intracranial calcification | (Orphanet:3145) |
| Neu-Laxova syndrome | (Orphanet:2671) |
| Neurogenic arthrogryposis multiplex congenita | (Orphanet:1143) |
| Night blindness - skeletal anomalies - dysmorphism | (Orphanet:1390) |
| Nijmegen breakage syndrome | (Orphanet:647) |
| Non-distal trisomy 10q | (Orphanet:1695) |
| Non-distal trisomy 13q | (Orphanet:1702) |
| Noonan syndrome | (Orphanet:648) |
| OSTEOMAS OF MANDIBLE | (OMIM:166400) |
| Oculocerebrofacial syndrome, Kaufman type | (Orphanet:2707) |
| Oculocerebrorenal syndrome | (Orphanet:534) |
| Oculodentodigital dysplasia | (Orphanet:2710) |
| Oculomaxillofacial dysostosis | (Orphanet:1794) |
| Oliver syndrome | (Orphanet:2920) |
| Orofaciodigital syndrome type 1 | (Orphanet:2750) |
| Orofaciodigital syndrome type 10 | (Orphanet:2756) |
| Orofaciodigital syndrome type 4 | (Orphanet:2753) |
| Osteodysplasty, Melnick-Needles type | (Orphanet:2484) |
| Osteogenesis imperfecta | (Orphanet:666) |
| Osteoglophonic dwarfism | (Orphanet:2645) |
| Osteopathia striata - cranial sclerosis | (Orphanet:2780) |
| Osteoporosis - pseudoglioma | (Orphanet:2788) |
| Osteosclerosis - developmental delay - craniosynostosis | (Orphanet:178377) |
| Otodental syndrome | (Orphanet:2791) |
| Otopalatodigital syndrome | (Orphanet:669) |
| Otopalatodigital syndrome type 2 | (Orphanet:90652) |
| PARC syndrome | (Orphanet:2825) |
| Pallister-Hall syndrome | (Orphanet:672) |
| Paraplegia - intellectual deficit - hyperkeratosis | (Orphanet:2824) |
| Paternal 20q13.2q13.3 microdeletion syndrome | (Orphanet:261304) |
| Patterson-Stevenson-Fontaine syndrome | (Orphanet:2439) |
| Penoscrotal transposition | (Orphanet:2842) |
| Pentasomy X | (Orphanet:11) |
| Perlman syndrome | (Orphanet:2849) |
| Peters-plus syndrome | (Orphanet:709) |
| Phocomelia, Schinzel type | (Orphanet:2879) |
| Pierre Robin syndrome - faciodigital anomaly | (Orphanet:2888) |
| Polysyndactyly - cardiac malformation | (Orphanet:2934) |
| Postaxial acrofacial dysostosis | (Orphanet:246) |
| Prolidase deficiency | (Orphanet:742) |
| Prominent glabella - microcephaly - hypogenitalism | (Orphanet:2083) |
| Proximal 16p11.2 microdeletion syndrome | (Orphanet:261197) |
| Pseudoprogeria syndrome | (Orphanet:2985) |
| Ptosis - upper ocular movement limitation - absence of lacrimal punctum | (Orphanet:228396) |
| Radio-renal syndrome | (Orphanet:3015) |
| Ramon syndrome | (Orphanet:3019) |
| Recombinant 8 syndrome | (Orphanet:96167) |
| Renal-genital-middle ear anomalies | (Orphanet:1092) |
| Rhizomelic syndrome, Urbach type | (Orphanet:3098) |
| Richieri Costa-Pereira syndrome | (Orphanet:3102) |
| Ring chromosome 10 | (Orphanet:1438) |
| Roberts syndrome | (Orphanet:3103) |
| Robin sequence - oligodactyly | (Orphanet:3104) |
| Rothmund-Thomson syndrome | (Orphanet:2909) |
| Rubinstein-Taybi syndrome | (Orphanet:783) |
| SCARF syndrome | (Orphanet:3134) |
| SHORT syndrome | (Orphanet:3163) |
| Sanjad-Sakati syndrome | (Orphanet:2323) |
| Say-Barber-Miller syndrome | (Orphanet:3132) |
| Schinzel-Giedion syndrome | (Orphanet:798) |
| Schwartz-Jampel syndrome | (Orphanet:800) |
| Sclerosteosis | (Orphanet:3152) |
| Seckel syndrome | (Orphanet:808) |
| Sheldon-Hall syndrome | (Orphanet:1147) |
| Short rib-polydactyly syndrome, Verma-Naumoff type | (Orphanet:93271) |
| Short stature - craniofacial anomalies - genital hypoplasia | (Orphanet:2994) |
| Short stature - heart defect - craniofacial anomalies | (Orphanet:1088) |
| Short stature - wormian bones - dextrocardia | (Orphanet:2863) |
| Shprintzen-Goldberg syndrome | (Orphanet:2462) |
| Smith-Lemli-Opitz syndrome | (Orphanet:818) |
| Smith-Magenis syndrome | (Orphanet:819) |
| Sotos syndrome | (Orphanet:821) |
| Splenogonadal fusion - limb defects - micrognathia | (Orphanet:2063) |
| Split hand - urinary anomalies - spina bifida | (Orphanet:2437) |
| Sternal malformation - vascular dysplasia | (Orphanet:3195) |
| Stickler syndrome | (Orphanet:828) |
| Stickler syndrome type 3 | (Orphanet:166100) |
| Stoll-Alembik-Finck syndrome | (Orphanet:3200) |
| Subaortic stenosis - short stature | (Orphanet:3191) |
| Syngnathia multiple anomalies | (Orphanet:3262) |
| TARP syndrome | (Orphanet:2886) |
| Teebi-Shaltout syndrome | (Orphanet:3291) |
| Temtamy syndrome | (Orphanet:1777) |
| Tetraamelia - multiple malformations | (Orphanet:3301) |
| Tetraploidy | (Orphanet:3305) |
| Thrombocytopenia - Robin sequence | (Orphanet:3323) |
| Thrombocytopenia - absent radius | (Orphanet:3320) |
| Toluene embryopathy | (Orphanet:1920) |
| Toriello-Carey syndrome | (Orphanet:3338) |
| Treacher-Collins syndrome | (Orphanet:861) |
| Tricho-oculo-dermo-vertebral syndrome | (Orphanet:3354) |
| Trichorhinophalangeal syndrome type 1 and 3 | (Orphanet:77258) |
| Trigonocephaly - bifid nose - acral anomalies | (Orphanet:3368) |
| Triploidy | (Orphanet:3376) |
| Trisomy 12p | (Orphanet:1699) |
| Trisomy 17p | (Orphanet:261290) |
| Trisomy 18 | (Orphanet:3380) |
| Trisomy 1q | (Orphanet:261344) |
| Trisomy 20p | (Orphanet:261318) |
| Trisomy 8q | (Orphanet:1752) |
| Ulbright-Hodes syndrome | (Orphanet:3404) |
| Urban-Rogers-Meyer syndrome | (Orphanet:3409) |
| VACTERL with hydrocephalus | (Orphanet:3412) |
| Van Regemorter-Pierquin-Vamos syndrome | (Orphanet:3419) |
| Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence | (Orphanet:3201) |
| Verloove Vanhorick-Brubakk syndrome | (Orphanet:3429) |
| Vici syndrome | (Orphanet:1493) |
| Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay | (Orphanet:73246) |
| WAGR syndrome | (Orphanet:893) |
| WT limb-blood syndrome | (Orphanet:3466) |
| Weaver syndrome | (Orphanet:3447) |
| Weaver-Williams syndrome | (Orphanet:3448) |
| White matter hypoplasia - corpus callosum agenesis - intellectual deficit | (Orphanet:3207) |
| Wiedemann-Rautenstrauch syndrome | (Orphanet:3455) |
| Williams syndrome | (Orphanet:904) |
| Wolf-Hirschhorn syndrome | (Orphanet:280) |
| X-linked distal arthrogryposis multiplex congenita | (Orphanet:1145) |
| X-linked dominant chondrodysplasia, Chassaing-Lacombe type | (Orphanet:163966) |
| X-linked intellectual deficit with marfanoid habitus | (Orphanet:776) |
| X-linked intellectual deficit, Najm type | (Orphanet:163937) |
| X-linked lissencephaly with abnormal genitalia | (Orphanet:452) |
| X-linked mandibulofacial dysostosis | (Orphanet:1131) |
| Yunis-Varon syndrome | (Orphanet:3472) |
| Zellweger syndrome | (Orphanet:912) |
| Zlotogora-Ogur syndrome | (Orphanet:3253) |