Epicanthus
Symptom Information:
Symptom ID: | HPO:0000286 | |||||||||||||||||||||
Synonyms: |
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Quality: | ||||||||||||||||||||||
Cross references: |
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Is a (Direct Parents): |
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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 periorbital region(HPO:0000606) Abnormality of the eyelid(HPO:0000492) Epicanthus(HPO:0000286) obsolete Abnormality of the ocular region(HPO:0000284) Abnormality of the eyelid(HPO:0000492) Epicanthus(HPO:0000286) MedDRA: |
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Database Frequency: | 371 / 7739 | |||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
10q22.3q23.3 microdeletion syndrome | (Orphanet:276413) |
14q11.2 microdeletion syndrome | (Orphanet:261120) |
14q12 microdeletion syndrome | (Orphanet:261144) |
15q11q13 microduplication syndrome | (Orphanet:238446) |
15q13.3 microdeletion syndrome | (Orphanet:199318) |
15q24 microdeletion syndrome | (Orphanet:94065) |
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
17q12 microdeletion syndrome | (Orphanet:261265) |
17q21.31 microduplication syndrome | (Orphanet:217340) |
17q23.1q23.2 microdeletion syndrome | (Orphanet:261279) |
19p13.12 microdeletion syndrome | (Orphanet:254346) |
1p36 deletion syndrome | (Orphanet:1606) |
1q21.1 microdeletion syndrome | (Orphanet:250989) |
20p12.3 microdeletion syndrome | (Orphanet:261295) |
22q11.2 deletion syndrome | (Orphanet:567) |
22q11.2 microduplication syndrome | (Orphanet:1727) |
2p15p16.1 microdeletion syndrome | (Orphanet:261349) |
2q31.1 microdeletion syndrome | (Orphanet:251014) |
3q13 microdeletion syndrome | (Orphanet:1621) |
48,XXXY syndrome | (Orphanet:96263) |
48,XXYY syndrome | (Orphanet:10) |
49,XXXXY syndrome | (Orphanet:96264) |
5p13 microduplication syndrome | (Orphanet:329802) |
6p22 microdeletion syndrome | (Orphanet:251046) |
6q16 deletion syndrome | (Orphanet:171829) |
6q25 microdeletion syndrome | (Orphanet:251056) |
8p11.2 deletion syndrome | (Orphanet:251066) |
8p23.1 microdeletion syndrome | (Orphanet:251071) |
8q12 microduplication syndrome | (Orphanet:228399) |
8q21.11 microdeletion syndrome | (Orphanet:284160) |
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE | (OMIM:101800) |
AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT | (OMIM:613506) |
AGENESIS OF THE CORPUS CALLOSUM AND CONGENITAL LYMPHEDEMA | (OMIM:613623) |
ALG3-CDG | (Orphanet:79321) |
AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM | (OMIM:104350) |
ARTHROGRYPOSIS, DISTAL, TYPE 2A | (OMIM:193700) |
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 | (OMIM:170995) |
Aarskog-Scott syndrome | (Orphanet:915) |
Abruzzo-Erickson syndrome | (Orphanet:921) |
Achalasia - microcephaly | (Orphanet:929) |
Acro-oto-ocular syndrome | (Orphanet:2980) |
Acro-renal-mandibular syndrome | (Orphanet:958) |
Acro-renal-ocular syndrome | (Orphanet:959) |
Acrocallosal syndrome | (Orphanet:36) |
Acrocephalopolydactyly | (Orphanet:221054) |
Acrodysostosis | (Orphanet:950) |
Acrodysostosis with multiple hormone resistance | (Orphanet:280651) |
Alpha-mannosidosis | (Orphanet:61) |
Alpha-thalassemia - X-linked intellectual deficit syndrome | (Orphanet:847) |
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16 | (Orphanet:98791) |
Aminopterin/methotrexate embryofetopathy | (Orphanet:1908) |
Arthrogryposis with oculomotor limitation and electroretinal anomalies | (Orphanet:1154) |
Autosomal agammaglobulinemia | (Orphanet:33110) |
Autosomal dominant Opitz G/BBB syndrome | (Orphanet:306588) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive multiple pterygium syndrome | (Orphanet:2990) |
Autosomal recessive omodysplasia | (Orphanet:93329) |
BARATELA-SCOTT SYNDROME | (OMIM:300881) |
BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION | (OMIM:613627) |
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA | (OMIM:609945) |
BRITTLE CORNEA SYNDROME 1 | (OMIM:229200) |
Baller-Gerold syndrome | (Orphanet:1225) |
Baraitser-Winter syndrome | (Orphanet:2995) |
Beckwith-Wiedemann syndrome due to 11p15 microdeletion | (Orphanet:231127) |
Beckwith-Wiedemann syndrome due to NSD1 mutation | (Orphanet:238613) |
Bifunctional enzyme deficiency | (Orphanet:300) |
Bilateral renal agenesis | (Orphanet:1848) |
Blepharonasofacial malformation syndrome | (Orphanet:1252) |
Blepharophimosis - epicanthus inversus - ptosis | (Orphanet:126) |
Blepharophimosis - radioulnar synostosis | (Orphanet:1256) |
Blepharophimosis-intellectual deficit syndrome, Ohdo type | (Orphanet:2728) |
Blue diaper syndrome | (Orphanet:94086) |
Brachymorphism - onychodysplasia - dysphalangism | (Orphanet:1292) |
Braddock syndrome | (Orphanet:52047) |
Brittle cornea syndrome | (Orphanet:90354) |
C syndrome | (Orphanet:1308) |
CARDIOFACIOCUTANEOUS SYNDROME 1 | (OMIM:115150) |
CARPENTER SYNDROME 1 | (OMIM:201000) |
CARPENTER SYNDROME 2 | (OMIM:614976) |
CHARGE syndrome | (Orphanet:138) |
CHROMOSOME 16q22 DELETION SYNDROME | (OMIM:614541) |
CHROMOSOME 17p13.1 DELETION SYNDROME | (OMIM:613776) |
CHROMOSOME 4q32.1-q32.2 TRIPLICATION SYNDROME | (OMIM:613603) |
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED | (OMIM:613544) |
CK syndrome | (Orphanet:251383) |
CODAS syndrome | (Orphanet:1458) |
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG | (OMIM:218649) |
Camptodactyly syndrome, Guadalajara type 1 | (Orphanet:1327) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Carey-Fineman-Ziter syndrome | (Orphanet:1358) |
Carpenter syndrome | (Orphanet:65759) |
Carpenter-Waziri syndrome | (Orphanet:93973) |
Cartilage-hair hypoplasia | (Orphanet:175) |
Cataract - aberrant oral frenula - growth delay | (Orphanet:1373) |
Cataract - intellectual deficit - hypogonadism | (Orphanet:1387) |
Caudal appendage - deafness | (Orphanet:1123) |
Cerebro-costo-mandibular syndrome | (Orphanet:1393) |
Cerebro-facio-articular syndrome | (Orphanet:314679) |
Cerebro-facio-thoracic dysplasia | (Orphanet:1394) |
Cerebro-oculo-nasal syndrome | (Orphanet:66625) |
Chudley-Lowry-Hoar syndrome | (Orphanet:93971) |
Cleft palate - short stature - vertebral anomalies | (Orphanet:2015) |
Coffin-Lowry syndrome | (Orphanet:192) |
Coffin-Siris syndrome | (Orphanet:1465) |
Conductive deafness - ptosis - skeletal anomalies | (Orphanet:3236) |
Congenital bile acid synthesis defect type 4 | (Orphanet:79095) |
Costello syndrome | (Orphanet:3071) |
Cranioectodermal dysplasia | (Orphanet:1515) |
Cranioectodermal dysplasia 1 | (OMIM:218330) |
Craniofacial dyssynostosis | (Orphanet:1516) |
Craniofaciofrontodigital syndrome | (Orphanet:363705) |
Cutis laxa | (Orphanet:209) |
Deafness - genital anomalies - metacarpal and metatarsal synostosis | (Orphanet:3224) |
Deafness - intellectual deficit, Martin-Probst type | (Orphanet:85321) |
Deafness - lymphedema - leukemia | (Orphanet:3226) |
Deafness - onychodystrophy | (Orphanet:3231) |
Desmosterolosis | (Orphanet:35107) |
Diaphanospondylodysostosis | (Orphanet:66637) |
Dislocation of the hip - dysmorphism | (Orphanet:2412) |
Distal 22q11.2 microduplication syndrome | (Orphanet:261337) |
Distal monosomy 10q | (Orphanet:96148) |
Distal monosomy 1q | (Orphanet:36367) |
Distal monosomy 3p | (Orphanet:1620) |
Distal monosomy 6p | (Orphanet:96125) |
Distal monosomy 9p | (Orphanet:1642) |
Down syndrome | (Orphanet:870) |
Dubowitz syndrome | (Orphanet:235) |
Dysmorphism - cleft palate - loose skin | (Orphanet:1779) |
EPICANTHUS | (OMIM:131500) |
Ectodermal dysplasia - intellectual deficit - central nervous system malformation | (Orphanet:1812) |
Ehlers-Danlos syndrome type 1 | (Orphanet:90309) |
Ehlers-Danlos syndrome, arthrochalasic type | (Orphanet:1899) |
Ehlers-Danlos syndrome, classic type | (Orphanet:287) |
Ehlers-Danlos syndrome, dermatosparaxis type | (Orphanet:1901) |
Ehlers-Danlos syndrome, hypermobility type | (Orphanet:285) |
Ehlers-Danlos syndrome, kyphoscoliotic type | (Orphanet:1900) |
Ehlers-Danlos syndrome, progeroid type | (Orphanet:75496) |
Ehlers-Danlos syndrome, vascular type | (Orphanet:286) |
Epiphyseal dysplasia - hearing loss - dysmorphism | (Orphanet:1825) |
FANCONI ANEMIA, COMPLEMENTATION GROUP N | (OMIM:610832) |
FEINGOLD SYNDROME 1 | (OMIM:164280) |
FRAXE intellectual deficit | (Orphanet:100973) |
FRONTOOCULAR SYNDROME | (OMIM:605321) |
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation | (Orphanet:1970) |
Facial dysmorphism - shawl scrotum - joint laxity | (Orphanet:1778) |
Facial ectodermal dysplasia | (Orphanet:1807) |
Fanconi anemia | (Orphanet:84) |
Feingold syndrome | (Orphanet:1305) |
Fetal alcohol syndrome | (Orphanet:1915) |
Fetal hydantoin syndrome | (Orphanet:1912) |
Fetal trimethadione syndrome | (Orphanet:1913) |
Fetal valproate syndrome | (Orphanet:1906) |
Free sialic acid storage disease, infantile form | (Orphanet:309324) |
Freeman-Sheldon syndrome | (Orphanet:2053) |
Frontonasal dysplasia | (Orphanet:250) |
GMS syndrome | (Orphanet:2090) |
Galloway-Mowat syndrome | (Orphanet:2065) |
Gingival fibromatosis-hypertrichosis syndrome | (Orphanet:2026) |
Glomerulonephritis - sparse hair - telangiectasis | (Orphanet:2087) |
Glycogen storage disease due to aldolase A deficiency | (Orphanet:57) |
Gonadal dysgenesis, XY type - associated anomalies | (Orphanet:1770) |
Gordon syndrome | (Orphanet:376) |
Gorlin syndrome | (Orphanet:377) |
HAJDU-CHENEY SYNDROME | (OMIM:102500) |
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 | (OMIM:616006) |
HOLOPROSENCEPHALY, RECURRENT INFECTIONS, AND MONOCYTOSIS | (OMIM:610680) |
HYPERTELORISM AND TETRALOGY OF FALLOT | (OMIM:239711) |
Hall-Riggs syndrome | (Orphanet:2107) |
Hartsfield-Bixler-Demyer syndrome | (Orphanet:2117) |
Hennekam syndrome | (Orphanet:2136) |
Hirsutism - skeletal dysplasia - intellectual deficit | (Orphanet:2156) |
Holmes-Gang syndrome | (Orphanet:93970) |
Holoprosencephaly | (Orphanet:2162) |
Holoprosencephaly - craniosynostosis | (Orphanet:2163) |
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly | (Orphanet:2180) |
Hydrocephaly - low insertion umbilicus | (Orphanet:2184) |
Hypertrichotic osteochondrodysplasia, Cantu type | (Orphanet:1517) |
Hypoglossia - hypodactyly | (Orphanet:989) |
Hypotonia - cystinuria syndrome | (Orphanet:163690) |
ICF syndrome | (Orphanet:2268) |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME1 | (OMIM:242860) |
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME2 | (OMIM:614069) |
Imperforate oropharynx - costo vetebral anomalies | (Orphanet:2759) |
Intellectual deficit - balding - patella luxation - acromicria | (Orphanet:3041) |
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy | (Orphanet:2958) |
Intellectual deficit, X-linked, Armfield type | (Orphanet:85276) |
Intellectual deficit, X-linked, Pai type | (Orphanet:85322) |
Intellectual deficit, X-linked, Vitale type | (Orphanet:85289) |
Intellectual deficit, X-linked, Wittwer type | (Orphanet:85291) |
Ito hypomelanosis | (Orphanet:435) |
Jacobsen syndrome | (Orphanet:2308) |
Joubert syndrome | (Orphanet:475) |
Joubert syndrome 1 | (OMIM:213300) |
Joubert syndrome 14 | (OMIM:614424) |
Joubert syndrome with ocular defect | (Orphanet:220493) |
Joubert syndrome with orofaciodigital defect | (Orphanet:2754) |
Juberg-Marsidi syndrome | (Orphanet:93972) |
Keipert syndrome | (Orphanet:2662) |
Knobloch syndrome | (Orphanet:1571) |
Koolen-De Vries syndrome | (Orphanet:96169) |
LEOPARD SYNDROME 1 | (OMIM:151100) |
LEOPARD SYNDROME 2 | (OMIM:611554) |
LIG4 syndrome | (Orphanet:99812) |
Lateral meningocele syndrome | (Orphanet:2789) |
Lathosterolosis | (Orphanet:46059) |
Laurence-Moon syndrome | (Orphanet:2377) |
Legius syndrome | (Orphanet:137605) |
Lethal multiple pterygium syndrome | (Orphanet:33108) |
Leukocyte adhesion deficiency | (Orphanet:2968) |
Lichstenstein syndrome | (Orphanet:2390) |
Lymphedema - atrial septal defects - facial changes | (Orphanet:86915) |
MEGAEPIPHYSEAL DWARFISM | (OMIM:249230) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 | (OMIM:616268) |
MENTAL RETARDATION, X-LINKED 91 | (OMIM:300577) |
MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE | (OMIM:612947) |
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY | (OMIM:615760) |
MIDFACE HYPOPLASIA, OBESITY, DEVELOPMENTAL DELAY, AND NEONATAL HYPOTONIA | (OMIM:608624) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 | (OMIM:615824) |
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY | (OMIM:614741) |
MOMO syndrome | (Orphanet:2563) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 | (OMIM:257300) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 | (OMIM:614114) |
Mandibulofacial dysostosis-microcephaly syndrome | (Orphanet:79113) |
Marden-Walker syndrome | (Orphanet:2461) |
Marshall syndrome | (Orphanet:560) |
Megalencephaly-capillary malformation-polymicrogyria syndrome | (Orphanet:60040) |
Megalocornea-intellectual deficit syndrome | (Orphanet:2479) |
Metaphyseal acroscyphodysplasia | (Orphanet:1240) |
Methylmalonic acidemia with homocystinuria | (Orphanet:26) |
Methylmalonic acidemia with homocystinuria, type cblF | (Orphanet:79284) |
Microcephaly - deafness - intellectual deficit | (Orphanet:2533) |
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type | (Orphanet:217026) |
Microcephaly - lymphedema - chorioretinopathy | (Orphanet:2526) |
Microcephaly - seizures - intellectual deficit - heart disease | (Orphanet:2519) |
Microcephaly-capillary malformation syndrome | (Orphanet:294016) |
Microcephaly-microcornea syndrome, Seemanova type | (Orphanet:2528) |
Microcornea - glaucoma - absent frontal sinuses | (Orphanet:2536) |
Miller-Dieker syndrome | (Orphanet:531) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | (Orphanet:369897) |
Moebius syndrome | (Orphanet:570) |
Monosomy 13q14 | (Orphanet:1587) |
Monosomy 18p | (Orphanet:1598) |
Monosomy 18q | (Orphanet:1600) |
Monosomy 22q13 | (Orphanet:48652) |
Monosomy 5p | (Orphanet:281) |
Monosomy 9p | (Orphanet:261112) |
Monosomy 9q22.3 | (Orphanet:77301) |
Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Mucolipidosis type 2 | (Orphanet:576) |
Mullerian derivatives - lymphangiectasia - polydactyly | (Orphanet:1655) |
Multiple benign circumferential skin creases on limbs | (Orphanet:2505) |
Multiple congenital anomalies - hypotonia - seizures syndrome | (Orphanet:280633) |
Myotonia permanens | (Orphanet:99735) |
NOONAN SYNDROME 1 | (OMIM:163950) |
NOONAN SYNDROME 4 | (OMIM:610733) |
NOONAN SYNDROME 8 | (OMIM:615355) |
Neonatal adrenoleukodystrophy | (Orphanet:44) |
Neuralgic amyotrophy | (Orphanet:2901) |
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | (Orphanet:88639) |
Neurofaciodigitorenal syndrome | (Orphanet:2673) |
Night blindness - skeletal anomalies - dysmorphism | (Orphanet:1390) |
Non-distal monosomy 10q | (Orphanet:1581) |
Non-rhizomelic chondrodysplasia punctata | (Orphanet:176) |
Noonan syndrome | (Orphanet:648) |
Noonan syndrome with multiple lentigines | (Orphanet:500) |
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | (Orphanet:363972) |
Noonan syndrome-like disorder with loose anagen hair | (Orphanet:2701) |
OCULODENTODIGITAL DYSPLASIA | (OMIM:164200) |
OPITZ-KAVEGGIA SYNDROME | (OMIM:305450) |
OROFACIODIGITAL SYNDROME VI | (OMIM:277170) |
OTOFACIOOSSEOUS-GONADAL SYNDROME | (OMIM:601976) |
Oculocerebrofacial syndrome, Kaufman type | (Orphanet:2707) |
Oculodentodigital dysplasia | (Orphanet:2710) |
Okamoto syndrome | (Orphanet:2729) |
Okihiro syndrome | (Orphanet:93293) |
Omphalocele syndrome, Shprintzen-Goldberg type | (Orphanet:3164) |
Opitz G/BBB syndrome | (Orphanet:2745) |
Orofaciodigital syndrome type 1 | (Orphanet:2750) |
Orofaciodigital syndrome type 4 | (Orphanet:2753) |
Orofaciodigital syndrome type 5 | (Orphanet:2919) |
Osteopathia striata - cranial sclerosis | (Orphanet:2780) |
PEHO syndrome | (Orphanet:2836) |
PEHO-like syndrome | (Orphanet:99807) |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | (OMIM:214100) |
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) | (OMIM:214110) |
PEROXISOME BIOGENESIS DISORDER 2B | (OMIM:202370) |
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) | (OMIM:614866) |
PHAVER syndrome | (Orphanet:2876) |
PTERYGIUM COLLI, ISOLATED | (OMIM:177990) |
Penoscrotal transposition | (Orphanet:2842) |
Perlman syndrome | (Orphanet:2849) |
Peroxisomal acyl-CoA oxidase deficiency | (Orphanet:2971) |
Pfeiffer-Palm-Teller syndrome | (Orphanet:2871) |
Phocomelia, Schinzel type | (Orphanet:2879) |
Pierre Robin syndrome - faciodigital anomaly | (Orphanet:2888) |
Polysyndactyly - cardiac malformation | (Orphanet:2934) |
Pontocerebellar hypoplasia, type 9 | (OMIM:615809) |
Postaxial polydactyly - dental and vertebral anomalies | (Orphanet:2916) |
Potocki-Shaffer syndrome | (Orphanet:52022) |
Progeroid syndrome, Petty type | (Orphanet:2963) |
Pterygium colli - intellectual deficit - digital anomalies | (Orphanet:2988) |
Pyruvate dehydrogenase E3-binding protein deficiency | (Orphanet:255182) |
Pyruvate dehydrogenase deficiency | (Orphanet:765) |
Renier-Gabreels-Jasper syndrome | (Orphanet:93975) |
Renpenning syndrome | (Orphanet:3242) |
Rhizomelic chondrodysplasia punctata | (Orphanet:177) |
Rhizomelic dysplasia, Patterson-Lowry type | (Orphanet:2831) |
Ring chromosome 6 | (Orphanet:1448) |
Ring chromosome 8 | (Orphanet:1450) |
Rothmund-Thomson syndrome | (Orphanet:2909) |
Rubinstein-Taybi syndrome | (Orphanet:783) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
SCARF syndrome | (Orphanet:3134) |
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY | (OMIM:614800) |
Scalp-ear-nipple syndrome | (Orphanet:2036) |
Schilbach-Rott syndrome | (Orphanet:2353) |
Short rib-polydactyly syndrome, Beemer-Langer type | (Orphanet:93268) |
Short rib-polydactyly syndrome, Verma-Naumoff type | (Orphanet:93271) |
Short stature - craniofacial anomalies - genital hypoplasia | (Orphanet:2994) |
Sialuria | (Orphanet:3166) |
Sillence syndrome | (Orphanet:3168) |
Simpson-Golabi-Behmel syndrome | (Orphanet:373) |
Simpson-Golabi-Behmel syndrome type 2 | (Orphanet:79022) |
Smith-Fineman-Myers syndrome | (Orphanet:93974) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Spinocerebellar ataxia - dysmorphism | (Orphanet:1185) |
Spondyloepimetaphyseal dysplasia, Geneviève type | (Orphanet:168454) |
Stickler syndrome | (Orphanet:828) |
Subaortic stenosis - short stature | (Orphanet:3191) |
Summitt syndrome | (Orphanet:3210) |
Synostosis - microcephaly - scoliosis | (Orphanet:3268) |
TEMPLE-BARAITSER SYNDROME | (OMIM:611816) |
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 | (OMIM:234050) |
Tetrasomy 12p | (Orphanet:884) |
Tetrasomy 18p | (Orphanet:3307) |
Tetrasomy X | (Orphanet:9) |
Toluene embryopathy | (Orphanet:1920) |
Toriello-Lacassie-Droste syndrome | (Orphanet:3339) |
Trigonocephaly - broad thumbs | (Orphanet:3365) |
Trigonocephaly - short stature - developmental delay | (Orphanet:3369) |
Trisomy 12p | (Orphanet:1699) |
Trisomy 18 | (Orphanet:3380) |
Trisomy 20p | (Orphanet:261318) |
Trisomy X | (Orphanet:3375) |
Trisomy Xq28 | (Orphanet:1762) |
Upper limb defect - eye and ear abnormalities | (Orphanet:2489) |
Urban-Rogers-Meyer syndrome | (Orphanet:3409) |
VAN MALDERGEM SYNDROME 1 | (OMIM:601390) |
VAN MALDERGEM SYNDROME 2 | (OMIM:615546) |
Velo-facial-skeletal syndrome | (Orphanet:3424) |
WHISTLING FACE SYNDROME, RECESSIVE FORM | (OMIM:277720) |
Warsaw breakage syndrome | (Orphanet:280558) |
Weaver syndrome | (Orphanet:3447) |
White forelock with malformations | (Orphanet:2475) |
Wiedemann-Steiner syndrome | (Orphanet:319182) |
Williams syndrome | (Orphanet:904) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
Wrinkly skin syndrome | (Orphanet:2834) |
X-linked dominant chondrodysplasia punctata | (Orphanet:35173) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
X-linked intellectual deficit, Golabi-Ito-Hall type | (Orphanet:93947) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |
X-linked lethal multiple pterygium syndrome | (Orphanet:79447) |
X-linked mandibulofacial dysostosis | (Orphanet:1131) |
Yunis-Varon syndrome | (Orphanet:3472) |
Zellweger syndrome | (Orphanet:912) |
Zellweger-like syndrome without peroxisomal anomalies | (Orphanet:50812) |
Zunich-Kaye syndrome | (Orphanet:3474) |
[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME | (OMIM:601321) |