Upslanted palpebral fissure

Symptom Information:

Symptom ID: HPO:0000582
Synonyms:
Mongoloid slant [HPO:0000582]
UPSLANTED PALPEBRAL FISSURES [HPO:0000582]
Upslanting palpebral fissures [HPO:0000582]
Upward slanted palpebral fissures [HPO:0000582]
Upward slanting of palpebral fissures [HPO:0000582]
Upward slanting palpebral fissures [HPO:0000582]
Upslanted palpebral fissures [OMIM:Upslanted palpebral fissures]
Upslanting palpebral fissures [OMIM:Upslanting palpebral fissures]
Upward slanted palpebral fissures [OMIM:Upward slanted palpebral fissures]
Upward slanting of palpebral fissures [OMIM:Upward slanting of palpebral fissures]
Upward slanting palpebral fissures [OMIM:Upward slanting palpebral fissures]
Upslanted palpebral fissures/mongoloid slanting palpebral fissures [Orphanet:3360]
Upslanting palpebral fissure [OMIM:Upslanting palpebral fissure]
Upslanting palpebral fissures (1 patient) [OMIM:Upslanting palpebral fissures (1 patient)]
Upslanting palpebral fissures (37%) [OMIM:Upslanting palpebral fissures (37%)]
Upslanting palpebral fissures (97%) [OMIM:Upslanting palpebral fissures (97%)]
Upslanting palpebral fissures (in some patients) [OMIM:Upslanting palpebral fissures (in some patients)]
Upward-slanted palpebral fissures (68%) [OMIM:Upward-slanted palpebral fissures (68%)]
Upward-slanting palpebral fissures [OMIM:Upward-slanting palpebral fissures]
Quality:
Cross references:
Orphanet:3360 "Upslanted palpebral fissures/mongoloid slanting palpebral fissures" [Orphanet:3360]
OMIM: "Upslanted palpebral fissures" [OMIM:Upslanted palpebral fissures]
OMIM: "Upslanting palpebral fissures" [OMIM:Upslanting palpebral fissures]
OMIM: "Upward slanted palpebral fissures" [OMIM:Upward slanted palpebral fissures]
OMIM: "Upward slanting of palpebral fissures" [OMIM:Upward slanting of palpebral fissures]
OMIM: "Upward slanting palpebral fissures" [OMIM:Upward slanting palpebral fissures]
OMIM: "Upslanting palpebral fissure" [OMIM:Upslanting palpebral fissure]
OMIM: "Upslanting palpebral fissures (1 patient)" [OMIM:Upslanting palpebral fissures (1 patient)]
OMIM: "Upslanting palpebral fissures (37%)" [OMIM:Upslanting palpebral fissures (37%)]
OMIM: "Upslanting palpebral fissures (97%)" [OMIM:Upslanting palpebral fissures (97%)]
OMIM: "Upslanting palpebral fissures (in some patients)" [OMIM:Upslanting palpebral fissures (in some patients)]
OMIM: "Upward-slanted palpebral fissures (68%)" [OMIM:Upward-slanted palpebral fissures (68%)]
OMIM: "Upward-slanting palpebral fissures" [OMIM:Upward-slanting palpebral fissures]
Is a (Direct Parents):
HPO         Slanting of the palpebral fissure
Orphanet Abnormal facial shape
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)
                      Abnormality of the palpebral fissures(HPO:0008050)
                         Slanting of the palpebral fissure(HPO:0200006)
                            Upslanted palpebral fissure(HPO:0000582)
                obsolete Abnormality of the ocular region(HPO:0000284)
                   Abnormality of the eyelid(HPO:0000492)
                      Abnormality of the palpebral fissures(HPO:0008050)
                         Slanting of the palpebral fissure(HPO:0200006)
                            Upslanted palpebral fissure(HPO:0000582)
MedDRA:
Database Frequency: 185 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microdeletion syndrome (Orphanet:276413)
10q22.3q23.3 microduplication syndrome (Orphanet:276422)
15q24 microdeletion syndrome (Orphanet:94065)
16p13.3 microduplication syndrome (Orphanet:96078)
16q24.3 microdeletion syndrome (Orphanet:261250)
1p36 deletion syndrome (Orphanet:1606)
1q41q42 microdeletion syndrome (Orphanet:250999)
1q44 microdeletion syndrome (Orphanet:238769)
22q11.2 deletion syndrome (Orphanet:567)
2q37 microdeletion syndrome (Orphanet:1001)
48,XXXY syndrome (Orphanet:96263)
48,XXYY syndrome (Orphanet:10)
49,XXXXY syndrome (Orphanet:96264)
5p13 microduplication syndrome (Orphanet:329802)
5q14.3 microdeletion syndrome (Orphanet:228384)
6q25 microdeletion syndrome (Orphanet:251056)
8p11.2 deletion syndrome (Orphanet:251066)
AREDYLD syndrome (Orphanet:1133)
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 (OMIM:170995)
Acrocephalopolydactyly (Orphanet:221054)
Alagille syndrome due to 20p12 microdeletion (Orphanet:261600)
Alagille syndrome due to a JAG1 point mutation (Orphanet:261619)
Allan-Herndon-Dudley syndrome (Orphanet:59)
Alopecia - contractures - dwarfism - intellectual deficit (Orphanet:1005)
Arachnodactyly - abnormal ossification - intellectual deficit (Orphanet:1129)
Arthrogryposis - renal dysfunction - cholestasis (Orphanet:2697)
Atrioventricular defect - blepharophimosis -radial defects (Orphanet:1352)
Autosomal dominant Robinow syndrome (Orphanet:3107)
Autosomal dominant microcephaly (Orphanet:2514)
Autosomal dominant spondylocostal dysostosis (Orphanet:1797)
Autosomal recessive Robinow syndrome (Orphanet:1507)
Autosomal recessive facio-digito-genital syndrome (Orphanet:1974)
BRACHYDACTYLY, TYPE A1, WITH SHORT STATURE, SCOLIOSIS, MICROCEPHALY,PTOSIS, HEARING LOSS, AND MENTAL RETARDATION (OMIM:613627)
Bencze syndrome (Orphanet:1241)
Beta-thalassemia major (Orphanet:231214)
Bifunctional enzyme deficiency (Orphanet:300)
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency (Orphanet:329255)
Bohring-Opitz syndrome (Orphanet:97297)
Brain malformation - congenital heart disease - postaxial polydactyly (Orphanet:75389)
Branchio-oculo-facial syndrome (Orphanet:1297)
C syndrome (Orphanet:1308)
CARPENTER SYNDROME 2 (OMIM:614976)
CATARACTS, CONGENITAL, WITH SENSORINEURAL DEAFNESS, DOWN SYNDROME-LIKEFACIAL APPEARANCE, SHORT STATURE, AND MENTAL RETARDATION (OMIM:601088)
CHROMOSOME 16q22 DELETION SYNDROME (OMIM:614541)
CHROMOSOME 22q13 DUPLICATION SYNDROME (OMIM:615538)
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED (OMIM:613544)
CK syndrome (Orphanet:251383)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
Camptodactyly syndrome, Guadalajara type 1 (Orphanet:1327)
Carpenter-Waziri syndrome (Orphanet:93973)
Cataract - aberrant oral frenula - growth delay (Orphanet:1373)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Cerebro-oculo-nasal syndrome (Orphanet:66625)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Cleft lip/palate - intestinal malrotation - cardiopathy (Orphanet:2001)
Corneal anesthesia - deafness - intellectual deficit (Orphanet:1051)
Corpus callosum agenesis - double urinary collecting system (Orphanet:1492)
Crossed polysyndactyly (Orphanet:2935)
Deafness-craniofacial syndrome (Orphanet:3241)
Delayed membranous cranial ossification (Orphanet:3034)
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type (Orphanet:363444)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Distal monosomy 10q (Orphanet:96148)
Distal monosomy 17q (Orphanet:1597)
Distal monosomy 3p (Orphanet:1620)
Distal monosomy 7q36 (Orphanet:1636)
Distal monosomy 9p (Orphanet:1642)
Down syndrome (Orphanet:870)
Dysmorphism - multiple structural anomalies (Orphanet:1780)
Emanuel syndrome (Orphanet:96170)
FEINGOLD SYNDROME 1 (OMIM:164280)
FRONTOOCULAR SYNDROME (OMIM:605321)
Familial scaphocephaly syndrome, McGillivray type (Orphanet:168624)
Fanconi anemia (Orphanet:84)
Feingold syndrome (Orphanet:1305)
Femoral-facial syndrome (Orphanet:1988)
Frontonasal dysplasia with alopecia and genital anomaly (Orphanet:228390)
GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gastrocutaneous syndrome (Orphanet:2069)
Geleophysic dysplasia (Orphanet:2623)
Growth delay - hydrocephaly - lung hypoplasia (Orphanet:3035)
HOLOPROSENCEPHALY 5 (OMIM:609637)
HUNTER-MACDONALD SYNDROME (OMIM:611962)
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 (OMIM:615716)
HYPERTELORISM AND OTHER FACIAL DYSMORPHISM, BRACHYDACTYLY, GENITALABNORMALITIES, MENTAL RETARDATION, AND RECURRENT INFLAMMATORY EPISODES (OMIM:614684)
HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVEFACIAL FEATURES (OMIM:609943)
Hennekam-Beemer syndrome (Orphanet:2135)
Hermansky-Pudlak syndrome with neutropenia (Orphanet:183678)
Hirschsprung disease - nail hypoplasia - dysmorphism (Orphanet:2153)
Holmes-Gang syndrome (Orphanet:93970)
Holoprosencephaly (Orphanet:2162)
Holoprosencephaly - craniosynostosis (Orphanet:2163)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Hyperphosphatasia-intellectual deficiency syndrome (Orphanet:247262)
Hypomandibular faciocranial dysostosis (Orphanet:1790)
Intellectual deficit - balding - patella luxation - acromicria (Orphanet:3041)
Intellectual deficit - polydactyly - uncombable hair (Orphanet:3082)
Intellectual deficit, Wolff type (Orphanet:3080)
Intellectual deficit, X-linked, Nascimento type (Orphanet:163956)
Intellectual disability-developmental delay-contractures syndrome (Orphanet:3454)
Ito hypomelanosis (Orphanet:435)
Juberg-Marsidi syndrome (Orphanet:93972)
Kleefstra syndrome (Orphanet:261494)
Koolen-De Vries syndrome (Orphanet:96169)
LIG4 syndrome (Orphanet:99812)
Leri pleonosteosis (Orphanet:2900)
Lethal multiple pterygium syndrome (Orphanet:33108)
Lymphedema - atrial septal defects - facial changes (Orphanet:86915)
MEDNIK syndrome (Orphanet:171851)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
MENTAL RETARDATION, X-LINKED 90 (OMIM:300850)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Mandibulofacial dysostosis-microcephaly syndrome (Orphanet:79113)
McDonough syndrome (Orphanet:2471)
Microcephalic osteodysplastic primordial dwarfism type 2 (Orphanet:2637)
Microcephaly - lymphedema - chorioretinopathy (Orphanet:2526)
Microcephaly-microcornea syndrome, Seemanova type (Orphanet:2528)
Miller-Dieker syndrome (Orphanet:531)
Monosomy 9p (Orphanet:261112)
Mosaic trisomy 9 (Orphanet:99776)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Mowat-Wilson syndrome (Orphanet:2152)
Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (Orphanet:300496)
Multiple epiphyseal dysplasia, Lowry type (Orphanet:166016)
Neuralgic amyotrophy (Orphanet:2901)
Nijmegen breakage syndrome (Orphanet:647)
Non-distal monosomy 10q (Orphanet:1581)
Non-rhizomelic chondrodysplasia punctata (Orphanet:176)
OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Oculo-skeletal-renal syndrome (Orphanet:2716)
Oculocerebrofacial syndrome, Kaufman type (Orphanet:2707)
Oculocerebrorenal syndrome (Orphanet:534)
Oculodentodigital dysplasia (Orphanet:2710)
Oculomaxillofacial dysostosis (Orphanet:1794)
Odontotrichomelic syndrome (Orphanet:2723)
Orofaciodigital syndrome type 8 (Orphanet:2755)
Osteocraniostenosis (Orphanet:2763)
Osteopenia - myopia - hearing loss - intellectual deficit - facial dysmorphism (Orphanet:91133)
Oto-onycho-peroneal syndrome (Orphanet:2793)
PALANT CLEFT PALATE SYNDROME (OMIM:260150)
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) (OMIM:214100)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) (OMIM:214110)
PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER) (OMIM:614862)
PROGEROID FACIAL APPEARANCE WITH HAND ANOMALIES (OMIM:602249)
Pentasomy X (Orphanet:11)
Peters-plus syndrome (Orphanet:709)
Pitt-Hopkins syndrome (Orphanet:2896)
Prader-Willi syndrome (Orphanet:739)
Primordial short stature - microdontia - opalescent and rootless teeth (Orphanet:46658)
Pterygium colli - intellectual deficit - digital anomalies (Orphanet:2988)
Pyruvate dehydrogenase E1-alpha deficiency (Orphanet:79243)
Pyruvate dehydrogenase deficiency (Orphanet:765)
RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
Renpenning syndrome (Orphanet:3242)
Rhizomelic chondrodysplasia punctata (Orphanet:177)
Rhizomelic chondrodysplasia punctata type 1 (Orphanet:309789)
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES (OMIM:612948)
Say-Barber-Miller syndrome (Orphanet:3132)
Schilbach-Rott syndrome (Orphanet:2353)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Smith-Magenis syndrome (Orphanet:819)
Split hand - urinary anomalies - spina bifida (Orphanet:2437)
Spondyloepiphyseal dysplasia, Cantu type (Orphanet:163654)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
TETRAAMELIA WITH ECTODERMAL DYSPLASIA AND LACRIMAL DUCT ABNORMALITIES (OMIM:273390)
Tetrasomy 12p (Orphanet:884)
Tetrasomy X (Orphanet:9)
Thrombocytopenia - Robin sequence (Orphanet:3323)
Trisomy 8q (Orphanet:1752)
Trisomy X (Orphanet:3375)
Urban-Rogers-Meyer syndrome (Orphanet:3409)
Wiedemann-Rautenstrauch syndrome (Orphanet:3455)
Wolcott-Rallison syndrome (Orphanet:1667)
Wrinkly skin syndrome (Orphanet:2834)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
X-linked intellectual deficit, Golabi-Ito-Hall type (Orphanet:93947)
XIA-GIBBS SYNDROME (OMIM:615829)
Yunis-Varon syndrome (Orphanet:3472)
Zellweger syndrome (Orphanet:912)
Zellweger-like syndrome without peroxisomal anomalies (Orphanet:50812)
Zunich-Kaye syndrome (Orphanet:3474)