Hypotelorism

Symptom Information:

Symptom ID: HPO:0000601
Synonyms:
Closely spaced eyes [HPO:0000601]
Ocular hypotelorism [HPO:0000601]
Closely spaced eyes [Orphanet:3340]
Orbital separation diminished (disorder) [Orphanet:3340]
Orbital separation diminished [Orphanet:3340]
Hypotelorism [OMIM:Hypotelorism]
Ocular hypotelorism [OMIM:Ocular hypotelorism]
Hypotelorism [Orphanet:3340]
Hypotelorism of orbit [Orphanet:3340]
Hypotelorism of orbit [MedDRA:10057855]
Hypotelorism [MedDRA:10057855]
Hypotelorism (1 patient) [OMIM:Hypotelorism (1 patient)]
Hypotelorism (19%) [OMIM:Hypotelorism (19%)]
Hypotelorism (in 2 patients) [OMIM:Hypotelorism (in 2 patients)]
Hypotelorism (in some patients) [OMIM:Hypotelorism (in some patients)]
Hypotelorism (rare) [OMIM:Hypotelorism (rare)]
Hypotelorism. [OMIM:Hypotelorism.]
Quality:
Cross references:
Orphanet:3340 "Hypotelorism" [Orphanet:3340]
OMIM: "Hypotelorism" [OMIM:Hypotelorism]
OMIM: "Ocular hypotelorism" [OMIM:Ocular hypotelorism]
OMIM: "Hypotelorism (1 patient)" [OMIM:Hypotelorism (1 patient)]
OMIM: "Hypotelorism (19%)" [OMIM:Hypotelorism (19%)]
OMIM: "Hypotelorism (in 2 patients)" [OMIM:Hypotelorism (in 2 patients)]
OMIM: "Hypotelorism (in some patients)" [OMIM:Hypotelorism (in some patients)]
OMIM: "Hypotelorism (rare)" [OMIM:Hypotelorism (rare)]
OMIM: "Hypotelorism." [OMIM:Hypotelorism.]
UMLS:C0424711 "Orbital separation diminished" [Orphanet:3340]
Is a (Direct Parents):
MedDRA Orbital structural change, deposit and degeneration
HPO         Abnormality of globe location
Orphanet Abnormal facial shape
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)
                   Hypotelorism(HPO:0000601)
       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 location(HPO:0100886)
                      Hypotelorism(HPO:0000601)
                obsolete Abnormality of the ocular region(HPO:0000284)
                   Abnormality of globe location(HPO:0100886)
                      Hypotelorism(HPO:0000601)
MedDRA:
Eye disorders(MedDRA:10015919)
    Ocular structural change, deposit and degeneration NEC(MedDRA:10042261)
       Orbital structural change, deposit and degeneration(MedDRA:10031055)
          Hypotelorism(HPO:0000601)
Database Frequency: 83 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microdeletion syndrome (Orphanet:276413)
10q22.3q23.3 microduplication syndrome (Orphanet:276422)
16p11.2p12.2 microdeletion syndrome (Orphanet:261211)
1q41q42 microdeletion syndrome (Orphanet:250999)
5p13 microduplication syndrome (Orphanet:329802)
6p22 microdeletion syndrome (Orphanet:251046)
ALDH18A1-related De Barsy syndrome (Orphanet:35664)
Acro-oto-ocular syndrome (Orphanet:2980)
Acrocraniofacial dysostosis (Orphanet:949)
Acrofacial dysostosis, Weyers type (Orphanet:952)
Autosomal dominant microcephaly (Orphanet:2514)
Autosomal recessive cutis laxa type 2B (Orphanet:357064)
Baller-Gerold syndrome (Orphanet:1225)
Braddock syndrome (Orphanet:52047)
CHROMOSOME 6q11-q14 DELETION SYNDROMECHROMOSOME 6q13-q14 DELETION SYNDROME, INCLUDED (OMIM:613544)
COFFIN-SIRIS SYNDROME (OMIM:135900)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
CULLER-JONES SYNDROME (OMIM:615849)
Camptodactyly syndrome, Guadalajara type 2 (Orphanet:1326)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Coffin-Siris syndrome (Orphanet:1465)
Congenital muscular dystrophy with intellectual disability and severe epilepsy (Orphanet:329178)
Cranioectodermal dysplasia (Orphanet:1515)
Cranioectodermal dysplasia 1 (OMIM:218330)
Craniotelencephalic dysplasia (Orphanet:1528)
De Barsy syndrome (Orphanet:2962)
Deafness - lymphedema - leukemia (Orphanet:3226)
FRONTOOCULAR SYNDROME (OMIM:605321)
GIACHETI SYNDROME (OMIM:612917)
Galloway-Mowat syndrome (Orphanet:2065)
HOLOPROSENCEPHALY 1 (OMIM:236100)
HOLOPROSENCEPHALY 11 (OMIM:614226)
HOLOPROSENCEPHALY 2 (OMIM:157170)
HOLOPROSENCEPHALY 3 (OMIM:142945)
HOLOPROSENCEPHALY 4 (OMIM:142946)
HOLOPROSENCEPHALY 5 (OMIM:609637)
HOLOPROSENCEPHALY 7 (OMIM:610828)
HOLOPROSENCEPHALY 9 (OMIM:610829)
HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA (OMIM:244200)
Harrod syndrome (Orphanet:2115)
Hartsfield-Bixler-Demyer syndrome (Orphanet:2117)
Holoprosencephaly (Orphanet:2162)
Holoprosencephaly - craniosynostosis (Orphanet:2163)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Holoprosencephaly - radial heart renal anomalies (Orphanet:3186)
Intellectual deficit - polydactyly - uncombable hair (Orphanet:3082)
Isolated trigonocephaly (Orphanet:3366)
Kenny-Caffey syndrome (Orphanet:2333)
Koolen-De Vries syndrome (Orphanet:96169)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLARATROPHY (OMIM:615760)
MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM (OMIM:601016)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 1 (OMIM:249000)
Microbrachycephaly - ptosis - cleft lip (Orphanet:2511)
Microcephalic primordial dwarfism, Dauber type (Orphanet:319675)
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type (Orphanet:217026)
Microform holoprosencephaly (Orphanet:280200)
Monosomy 13q14 (Orphanet:1587)
Mosaic trisomy 9 (Orphanet:99776)
Neuralgic amyotrophy (Orphanet:2901)
Non-distal trisomy 13q (Orphanet:1702)
Norrie disease (Orphanet:649)
Oculodentodigital dysplasia (Orphanet:2710)
Osteocraniostenosis (Orphanet:2763)
Pacman dysplasia (Orphanet:1952)
SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES (OMIM:602471)
Scalp-ear-nipple syndrome (Orphanet:2036)
Schilbach-Rott syndrome (Orphanet:2353)
Solitary median maxillary central incisor syndrome (Orphanet:2286)
Stormorken-Sjaastad-Langslet syndrome (Orphanet:3204)
TRIGONOCEPHALY 1 (OMIM:190440)
Trigonocephaly - broad thumbs (Orphanet:3365)
Trigonocephaly - short stature - developmental delay (Orphanet:3369)
Trisomy 13 (Orphanet:3378)
Trisomy 1q (Orphanet:261344)
Vici syndrome (Orphanet:1493)
WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME (OMIM:602418)
Williams syndrome (Orphanet:904)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
XK aprosencephaly (Orphanet:3469)