Microphthalmia

Symptom Information:

Symptom ID: HPO:0000568
Synonyms:
Microphthalmia [HPO:0000568]
Nanophthalmos [HPO:0000568]
anophthalmia [Orphanet:4020]
Anophthalmos (disorder) [Orphanet:4020]
Simple microphthalmos (disorder) [Orphanet:4020]
Microphthalmos (disorder) [Orphanet:4020]
Agenesis of eye (disorder) [Orphanet:4020]
Absent eyeball (finding) [Orphanet:4020]
Microphthalmus [HPO:0000568]
Absent eyeball [Orphanet:4020]
Microphthalmos [Orphanet:4020]
Anophthalmos [Orphanet:4020]
Microphthalmia [OMIM:Microphthalmia]
Microphthalmos [OMIM:Microphthalmos]
Nanophthalmos [OMIM:Nanophthalmos]
Anophthalmos/anophthalmia/microphthalmos/microphthalmia [Orphanet:4020]
Anophthalmos [MedDRA:10002640]
Anophthalmia [MedDRA:10002640]
Clinical anophthalmos, unspecified [MedDRA:10002640]
Microphthalmos [MedDRA:10027548]
Congenital microphthalmos [MedDRA:10027548]
Microphthalmia [MedDRA:10027548]
Microphthalmos associated with other anomalies of eye and adnexa [MedDRA:10027548]
Microphthalmos, unspecified [MedDRA:10027548]
Simple microphthalmos [MedDRA:10027548]
Anophthalmos [OMIM:Anophthalmos]
Microphthalmia (15%) [OMIM:Microphthalmia (15%)]
Microphthalmia (WWS) [OMIM:Microphthalmia (WWS)]
Microphthalmia (in some patients) [OMIM:Microphthalmia (in some patients)]
Microphthalmia (ipsilateral to facial hemangioma) [OMIM:Microphthalmia (ipsilateral to facial hemangioma)]
Microphthalmia (rare) [OMIM:Microphthalmia (rare)]
Microphthalmia (some) [OMIM:Microphthalmia (some)]
Quality:
Cross references:
HPO:0011478 "True anophthalmia" [Orphanet:4020]
HPO:0000528 "Anophthalmia" [Orphanet:4020]
Orphanet:4020 "Anophthalmos/anophthalmia/microphthalmos/microphthalmia" [Orphanet:4020]
OMIM: "Microphthalmia" [OMIM:Microphthalmia]
OMIM: "Microphthalmos" [OMIM:Microphthalmos]
OMIM: "Nanophthalmos" [OMIM:Nanophthalmos]
OMIM: "Anophthalmos" [OMIM:Anophthalmos]
OMIM: "Microphthalmia (15%)" [OMIM:Microphthalmia (15%)]
OMIM: "Microphthalmia (WWS)" [OMIM:Microphthalmia (WWS)]
OMIM: "Microphthalmia (in some patients)" [OMIM:Microphthalmia (in some patients)]
OMIM: "Microphthalmia (ipsilateral to facial hemangioma)" [OMIM:Microphthalmia (ipsilateral to facial hemangioma)]
OMIM: "Microphthalmia (rare)" [OMIM:Microphthalmia (rare)]
OMIM: "Microphthalmia (some)" [OMIM:Microphthalmia (some)]
UMLS:C1055232 "Microphthalmus" [HPO:0000568]
UMLS:C0423217 "Absent eyeball" [Orphanet:4020]
UMLS:C0026010 "Microphthalmos" [Orphanet:4020]
UMLS:C0003119 "Anophthalmos" [Orphanet:4020]
Is a (Direct Parents):
Orphanet Abnormality of the eye
MedDRA Ocular disorders congenital NEC
HPO         Abnormality of globe size
HPO         Aplasia/Hypoplasia affecting the eye
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 orbital region(HPO:0000315)
                   Abnormality of globe size(HPO:0100887)
                      Microphthalmia(HPO:0000568)
                obsolete Abnormality of the ocular region(HPO:0000284)
                   Abnormality of globe size(HPO:0100887)
                      Microphthalmia(HPO:0000568)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye morphology(HPO:0012372)
             Abnormality of the globe(HPO:0012374)
                Abnormality of globe size(HPO:0100887)
                   Microphthalmia(HPO:0000568)
                Aplasia/Hypoplasia affecting the eye(HPO:0008056)
                   Microphthalmia(HPO:0000568)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Eye disorders congenital(MedDRA:10015920)
       Ocular disorders congenital NEC(MedDRA:10027673)
          Microphthalmia(HPO:0000568)
Database Frequency: 183 / 7739
Resource:

All diseases associated with this symptom:

15q24 microdeletion syndrome (Orphanet:94065)
17q12 microduplication syndrome (Orphanet:261272)
1q41q42 microdeletion syndrome (Orphanet:250999)
ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
ADAMS-OLIVER SYNDROME 2 (OMIM:614219)
Acro-fronto-facio-nasal dysostosis (Orphanet:1784)
Acro-renal-ocular syndrome (Orphanet:959)
Adams-Oliver syndrome (Orphanet:974)
Aicardi syndrome (Orphanet:50)
Anophthalmia plus syndrome (Orphanet:1104)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Arrhinia - choanal atresia - microphthalmia (Orphanet:1135)
Atrioventricular defect - blepharophimosis -radial defects (Orphanet:1352)
Autosomal dominant Kenny-Caffey syndrome (Orphanet:93325)
Autosomal dominant vitreoretinochoroidopathy (Orphanet:3086)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
BRACHYDACTYLY, COLOBOMA, AND ANTERIOR SEGMENT DYSGENESIS (OMIM:610023)
BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA (OMIM:609945)
Baraitser-Winter syndrome (Orphanet:2995)
Bartsocas-Papas syndrome (Orphanet:1234)
Blepharophimosis - epicanthus inversus - ptosis (Orphanet:126)
Branchio-oculo-facial syndrome (Orphanet:1297)
CATARACT 9, MULTIPLE TYPES (OMIM:604219)
CEREBROOCULOFACIOSKELETAL SYNDROME 1 (OMIM:214150)
CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
CHARGE syndrome (Orphanet:138)
COCKAYNE SYNDROME B (OMIM:133540)
COFS syndrome (Orphanet:1466)
CORNEAL OPACIFICATION WITH OTHER OCULAR ANOMALIES (OMIM:269400)
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Cat-eye syndrome (Orphanet:195)
Cockayne syndrome (Orphanet:191)
Colobomatous microphthalmia (Orphanet:98938)
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome (Orphanet:363741)
Congenital blindness due to retinal non-attachment (Orphanet:300337)
Congenital primary aphakia (Orphanet:83461)
Craniotelencephalic dysplasia (Orphanet:1528)
Curry-Jones syndrome (Orphanet:1553)
DEXTROCARDIA WITH UNUSUAL FACIES AND MICROPHTHALMIA (OMIM:221950)
Dihydropyrimidine dehydrogenase deficiency (Orphanet:1675)
Dubowitz syndrome (Orphanet:235)
EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Ectodermal dysplasia - blindness (Orphanet:1806)
Encephalocraniocutaneous lipomatosis (Orphanet:2396)
FACIOTHORACOGENITAL SYNDROME (OMIM:227320)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
FANCONI ANEMIA, COMPLEMENTATION GROUP C (OMIM:227645)
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 (OMIM:227646)
FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
FANCONI ANEMIA, COMPLEMENTATION GROUP J (OMIM:609054)
FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
FOVEAL HYPOPLASIA 2 (OMIM:609218)
FRONTOFACIONASAL DYSPLASIA (OMIM:229400)
Familial vascular leukoencephalopathy (Orphanet:36383)
Fanconi anemia (Orphanet:84)
Focal dermal hypoplasia (Orphanet:2092)
Fronto-facio-nasal dysostosis (Orphanet:1791)
Frontonasal dysplasia (Orphanet:250)
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome (Orphanet:306542)
Fryns syndrome (Orphanet:2059)
GOMBO SYNDROME (OMIM:233270)
Galloway-Mowat syndrome (Orphanet:2065)
Goldenhar syndrome (Orphanet:374)
Gorlin syndrome (Orphanet:377)
Gorlin-Chaudhry-Moss syndrome (Orphanet:2095)
HOLOPROSENCEPHALY 2 (OMIM:157170)
HOLOPROSENCEPHALY 9 (OMIM:610829)
HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Hallermann-Streiff syndrome (Orphanet:2108)
Histiocytoid cardiomyopathy (Orphanet:137675)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Holoprosencephaly - radial heart renal anomalies (Orphanet:3186)
Hydrolethalus (Orphanet:2189)
Incontinentia pigmenti (Orphanet:464)
Isolated anophthalmia - microphthalmia (Orphanet:2542)
Isolated cryptophthalmia (Orphanet:91396)
Jacobsen syndrome (Orphanet:2308)
Joubert syndrome 14 (OMIM:614424)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome 22 (OMIM:615665)
Kapur-Toriello syndrome (Orphanet:2328)
Kenny-Caffey syndrome (Orphanet:2333)
Leber congenital amaurosis 10 (OMIM:611755)
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 (OMIM:616171)
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 (OMIM:616335)
MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA,AND DENTAL ANOMALIES (OMIM:251700)
MICROPHTHALMIA, ISOLATED 1 (OMIM:251600)
MICROPHTHALMIA, ISOLATED 2 (OMIM:610093)
MICROPHTHALMIA, ISOLATED 3 (OMIM:611038)
MICROPHTHALMIA, ISOLATED 4 (OMIM:613094)
MICROPHTHALMIA, ISOLATED 6 (OMIM:613517)
MICROPHTHALMIA, ISOLATED 7 (OMIM:613704)
MICROPHTHALMIA, ISOLATED 8 (OMIM:615113)
MICROPHTHALMIA, ISOLATED, WITH CATARACT 1 (OMIM:156850)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3 (OMIM:610092)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 4 (OMIM:251505)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (OMIM:611638)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 (OMIM:614497)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
MICROPHTHALMIA, ISOLATED, WITH CORECTOPIA (OMIM:156900)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
MICROPHTHALMIA, SYNDROMIC 11 (OMIM:614402)
MICROPHTHALMIA, SYNDROMIC 12 (OMIM:615524)
MICROPHTHALMIA, SYNDROMIC 13 (OMIM:300915)
MICROPHTHALMIA, SYNDROMIC 7 (OMIM:309801)
MMEP syndrome (Orphanet:3434)
MOVED TO 302200 (OMIM:302300)
MRCS syndrome (Orphanet:263347)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11 (OMIM:615181)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 (OMIM:615249)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2 (OMIM:613150)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5 (OMIM:613153)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7 (OMIM:614643)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 8 (OMIM:614830)
Macrosomia - microphthalmia - cleft palate (Orphanet:2432)
Marden-Walker syndrome (Orphanet:2461)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 1 (OMIM:249000)
Meckel syndrome, type 2 (OMIM:603194)
Meckel syndrome, type 4 (OMIM:611134)
Meckel syndrome, type 5 (OMIM:611561)
Meckel syndrome, type 8 (OMIM:613885)
Megalencephaly-capillary malformation-polymicrogyria syndrome (Orphanet:60040)
Micro syndrome (Orphanet:2510)
Microphthalmia - ankyloblepharon - intellectual deficit (Orphanet:85275)
Microphthalmia - cataract (Orphanet:2543)
Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen (Orphanet:251279)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
Microphthalmia with limb anomalies (Orphanet:1106)
Moebius syndrome (Orphanet:570)
Mowat-Wilson syndrome (Orphanet:2152)
Muscle-eye-brain disease (Orphanet:588)
Myhre syndrome (Orphanet:2588)
NANOPHTHALMOS 2 (OMIM:609549)
NANOPHTHALMOS 4 (OMIM:615972)
Nance-Horan syndrome (Orphanet:627)
Neu-Laxova syndrome (Orphanet:2671)
Norrie disease (Orphanet:649)
OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
Oculo-palato-cerebral syndrome (Orphanet:2714)
Oculoauricular syndrome, Schorderet type (Orphanet:157962)
Oculocerebrocutaneous syndrome (Orphanet:1647)
Oculocerebrorenal syndrome (Orphanet:534)
Oculodentodigital dysplasia (Orphanet:2710)
Oculofaciocardiodental syndrome (Orphanet:2712)
Oculotrichoanal syndrome (Orphanet:2717)
Okihiro syndrome (Orphanet:93293)
Osteocraniostenosis (Orphanet:2763)
Osteoporosis - pseudoglioma (Orphanet:2788)
PHACE syndrome (Orphanet:42775)
Pallister-Hall syndrome (Orphanet:672)
Pelvis-shoulder dysplasia (Orphanet:2839)
Pelviscapular dysplasia (Orphanet:93333)
ROBERTS SYNDROME (OMIM:268300)
Renal coloboma syndrome (Orphanet:1475)
Renpenning syndrome (Orphanet:3242)
Retinal degeneration - nanophthalmos - glaucoma (Orphanet:1574)
Roberts syndrome (Orphanet:3103)
Rothmund-Thomson syndrome (Orphanet:2909)
SECKEL SYNDROME 2 (OMIM:606744)
STEVENSON-CAREY SYNDROME (OMIM:611961)
Solitary median maxillary central incisor syndrome (Orphanet:2286)
Subaortic stenosis - short stature (Orphanet:3191)
Syndromic microphthalmia type 5 (Orphanet:178364)
Tetraamelia - multiple malformations (Orphanet:3301)
Uveal coloboma - cleft lip and palate - intellectual deficit (Orphanet:1473)
WARBURG MICRO SYNDROME 1 (OMIM:600118)
WARBURG MICRO SYNDROME 2 (OMIM:614225)
WARBURG MICRO SYNDROME 3 (OMIM:614222)
WARBURG MICRO SYNDROME 4 (OMIM:615663)
Wolfram syndrome 1 (OMIM:222300)
X-linked dominant chondrodysplasia punctata (Orphanet:35173)
X-linked dominant chondrodysplasia, Chassaing-Lacombe type (Orphanet:163966)
Xeroderma pigmentosum complementation group B (Orphanet:276252)
Xeroderma pigmentosum complementation group G (Orphanet:276267)