Deeply set eye

Symptom Information:

Symptom ID: HPO:0000490
Synonyms:
Deep set eye [HPO:0000490]
Deep-set eyes [HPO:0000490]
Enophthalmos [HPO:0000490]
Sunken eyes [HPO:0000490]
Deeply set eyes [Orphanet:3460]
Sunken eyes (finding) [Orphanet:3460]
Enophthalmos (disorder) [Orphanet:3460]
Enophthalmos [Orphanet:3460]
Sunken eyes [Orphanet:3460]
Deep-set eyes [OMIM:Deep-set eyes]
Enophthalmos [OMIM:Enophthalmos]
Sunken eyes [OMIM:Sunken eyes]
Deepset eyes/enophthalmos [Orphanet:3460]
Eyes sunken [Orphanet:3460]
Enophthalmos [MedDRA:10014853]
Enophthalmos due to atrophy of orbital tissue [MedDRA:10014853]
Enophthalmos, unspecified as to cause [MedDRA:10014853]
Lid sulcus deepened [MedDRA:10072716]
Eyes sunken [MedDRA:10072716]
Sunken eyes [MedDRA:10072716]
Deep set eyes [OMIM:Deep set eyes]
Deep-set eyes (in 1/4 patients) [OMIM:Deep-set eyes (in 1/4 patients)]
Deep-set eyes (in 2 patients) [OMIM:Deep-set eyes (in 2 patients)]
Deep-set eyes (in early childhood) [OMIM:Deep-set eyes (in early childhood)]
Deep-set eyes (in some patients) [OMIM:Deep-set eyes (in some patients)]
Deep-set eyes (rare) [OMIM:Deep-set eyes (rare)]
Eyes deep-set [OMIM:Eyes deep-set]
Quality:
Cross references:
HPO:0000663 "Enophthalmos" [Orphanet:3460]
Orphanet:3460 "Deepset eyes/enophthalmos" [Orphanet:3460]
OMIM: "Deep-set eyes" [OMIM:Deep-set eyes]
OMIM: "Enophthalmos" [OMIM:Enophthalmos]
OMIM: "Sunken eyes" [OMIM:Sunken eyes]
OMIM: "Deep set eyes" [OMIM:Deep set eyes]
OMIM: "Deep-set eyes (in 1/4 patients)" [OMIM:Deep-set eyes (in 1/4 patients)]
OMIM: "Deep-set eyes (in 2 patients)" [OMIM:Deep-set eyes (in 2 patients)]
OMIM: "Deep-set eyes (in early childhood)" [OMIM:Deep-set eyes (in early childhood)]
OMIM: "Deep-set eyes (in some patients)" [OMIM:Deep-set eyes (in some patients)]
OMIM: "Deep-set eyes (rare)" [OMIM:Deep-set eyes (rare)]
OMIM: "Eyes deep-set" [OMIM:Eyes deep-set]
UMLS:C0014306 "Enophthalmos" [HPO:0000490]
UMLS:C0014306 "Enophthalmos" [Orphanet:3460]
UMLS:C0423224 "Sunken eyes" [Orphanet:3460]
Is a (Direct Parents):
MedDRA Orbital structural change, deposit and degeneration
Orphanet Abnormal facial shape
MedDRA Structural change, deposit and degeneration of eye NEC
HPO         Abnormality of globe location
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye morphology(HPO:0012372)
             Abnormality of the globe(HPO:0012374)
                Abnormality of globe location(HPO:0100886)
                   Deeply set eye(HPO:0000490)
       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 globe location(HPO:0100886)
                      Deeply set eye(HPO:0000490)
                Abnormality of the orbital region(HPO:0000315)
                   Abnormality of globe location(HPO:0100886)
                      Deeply set eye(HPO:0000490)
MedDRA:
Eye disorders(MedDRA:10015919)
    Ocular structural change, deposit and degeneration NEC(MedDRA:10042261)
       Structural change, deposit and degeneration of eye NEC(MedDRA:10042260)
          Deeply set eye(HPO:0000490)
       Orbital structural change, deposit and degeneration(MedDRA:10031055)
          Deeply set eye(HPO:0000490)
Database Frequency: 131 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microduplication syndrome (Orphanet:276422)
12q14 microdeletion syndrome (Orphanet:94063)
14q11.2 microdeletion syndrome (Orphanet:261120)
15q14 microdeletion syndrome (Orphanet:261190)
15q24 microdeletion syndrome (Orphanet:94065)
16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
17q12 microduplication syndrome (Orphanet:261272)
1p36 deletion syndrome (Orphanet:1606)
1q21.1 microdeletion syndrome (Orphanet:250989)
1q41q42 microdeletion syndrome (Orphanet:250999)
2q37 microdeletion syndrome (Orphanet:1001)
5q14.3 microdeletion syndrome (Orphanet:228384)
6p22 microdeletion syndrome (Orphanet:251046)
8p23.1 microdeletion syndrome (Orphanet:251071)
8p23.1 microduplication syndrome (Orphanet:251076)
ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Acrofacial dysostosis, Rodriguez type (Orphanet:1788)
Alagille syndrome (Orphanet:52)
Alagille syndrome due to 20p12 microdeletion (Orphanet:261600)
Alagille syndrome due to a JAG1 point mutation (Orphanet:261619)
Alström syndrome (Orphanet:64)
Angelman syndrome (Orphanet:72)
Arthrogryposis with oculomotor limitation and electroretinal anomalies (Orphanet:1154)
Atypical Rett syndrome (Orphanet:3095)
Autosomal dominant hyper-IgE syndrome (Orphanet:2314)
Autosomal recessive cutis laxa type 2B (Orphanet:357064)
Bangstad syndrome (Orphanet:1227)
Bardet-Biedl syndrome 4 (OMIM:615982)
Barth syndrome (Orphanet:111)
Beckwith-Wiedemann syndrome due to 11p15 microdeletion (Orphanet:231127)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
COFS syndrome (Orphanet:1466)
CORPUS CALLOSUM, AGENESIS OF (OMIM:217990)
Chondrodysplasia - disorder of sex development (Orphanet:1422)
Christianson syndrome (Orphanet:85278)
Cockayne syndrome (Orphanet:191)
Congenital Horner syndrome (Orphanet:91413)
Cystic fibrosis - gastritis - megaloblastic anemia (Orphanet:2575)
Deafness-craniofacial syndrome (Orphanet:3241)
Dermato-cardio-skeletal syndrome, Borrone type (Orphanet:1266)
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type (Orphanet:363444)
Disorder of sex development - intellectual deficit (Orphanet:2983)
Distal 22q11.2 microdeletion syndrome (Orphanet:261330)
Distal 22q11.2 microduplication syndrome (Orphanet:261337)
Duane retraction syndrome (Orphanet:233)
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES (OMIM:609944)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 (OMIM:300672)
EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Ectodermal dysplasia - intellectual deficit - central nervous system malformation (Orphanet:1812)
Ehlers-Danlos syndrome, vascular type (Orphanet:286)
Emanuel syndrome (Orphanet:96170)
Encephalopathy due to sulfite oxidase deficiency (Orphanet:833)
Epidermolysis bullosa simplex with pyloric atresia (Orphanet:158684)
FORSYTHE-WAKELING SYNDROME (OMIM:613606)
Floating-Harbor syndrome (Orphanet:2044)
Freeman-Sheldon syndrome (Orphanet:2053)
GRANDDAD SYNDROME (OMIM:138920)
Geroderma osteodysplastica (Orphanet:2078)
Glycogen storage disease due to glycogen debranching enzyme deficiency (Orphanet:366)
Holoprosencephaly (Orphanet:2162)
Hydrolethalus (Orphanet:2189)
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
Intellectual deficit - balding - patella luxation - acromicria (Orphanet:3041)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit - dysmorphism - hypogonadism - diabetes mellitus (Orphanet:3044)
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures (Orphanet:1568)
Intellectual deficit, X-linked - cubitus valgus - dysmorphism (Orphanet:85280)
Intellectual deficit, X-linked, Brooks type (Orphanet:3056)
Intellectual deficit, X-linked, Nascimento type (Orphanet:163956)
Joubert syndrome 14 (OMIM:614424)
Lacrimo-auriculo-dento-digital syndrome (Orphanet:2363)
Langer-Giedion syndrome (Orphanet:502)
Leber congenital amaurosis 10 (OMIM:611755)
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect (Orphanet:330050)
Lipodystrophy - intellectual deficit - deafness (Orphanet:50811)
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 (OMIM:614643)
Macrocephaly - spastic paraplegia - dysmorphism (Orphanet:2429)
Marfan syndrome type 1 (Orphanet:284963)
Megalencephaly (Orphanet:2477)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Micro syndrome (Orphanet:2510)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Monosomy 22q13 (Orphanet:48652)
Morse-Rawnsley-Sargent syndrome (Orphanet:2570)
Mosaic trisomy 8 (Orphanet:96061)
Mowat-Wilson syndrome (Orphanet:2152)
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism (Orphanet:280679)
Myhre syndrome (Orphanet:2588)
Neuralgic amyotrophy (Orphanet:2901)
Norrie disease (Orphanet:649)
Oculocerebrorenal syndrome (Orphanet:534)
Oculodentodigital dysplasia (Orphanet:2710)
PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY (OMIM:602342)
Paternal 20q13.2q13.3 microdeletion syndrome (Orphanet:261304)
Perlman syndrome (Orphanet:2849)
Pitt-Hopkins syndrome (Orphanet:2896)
Pontocerebellar hypoplasia type 6 (Orphanet:166073)
Progeria - short stature - pigmented nevi (Orphanet:2959)
Progressive hemifacial atrophy (Orphanet:1214)
RHYNS syndrome (Orphanet:140976)
Rothmund-Thomson syndrome (Orphanet:2909)
Rubinstein-Taybi syndrome due to CREBBP mutations (Orphanet:353277)
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES (OMIM:602471)
SHORT syndrome (Orphanet:3163)
Sanjad-Sakati syndrome (Orphanet:2323)
Short stature - intellectual deficit - eye anomalies - cleft lip/palate (Orphanet:2649)
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (Orphanet:314394)
Silent sinus syndrome (Orphanet:71276)
Smith-Magenis syndrome (Orphanet:819)
Stormorken-Sjaastad-Langslet syndrome (Orphanet:3204)
Syndromic X-linked intellectual deficit due to JARID1C mutation (Orphanet:85279)
Trisomy 13 (Orphanet:3378)
Trisomy 9p (Orphanet:236)
WARBURG MICRO SYNDROME 1 (OMIM:600118)
WARBURG MICRO SYNDROME 4 (OMIM:615663)
WEBB-DATTANI SYNDROME (OMIM:615926)
Weaver-Williams syndrome (Orphanet:3448)
Wilson-Turner syndrome (Orphanet:3459)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked intellectual disability due to GRIA3 anomalies (Orphanet:364028)
XFE PROGEROID SYNDROME (OMIM:610965)
Xeroderma pigmentosum complementation group F (Orphanet:276264)
Xq27.3q28 duplication syndrome (Orphanet:261483)