Upslanted palpebral fissure
Symptom Information:
Symptom ID: | HPO:0000582 | |||||||||||||||||||
Synonyms: |
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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) 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) 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) MedDRA: |
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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) |