Hypertelorism

Basic details

Preferred term: Hypertelorism
Alt. terms: Excessive orbital separation | Increased distance between eye sockets | Increased distance between eyes | Increased interpupillary distance | Ocular hypertelorism | Wide-set eyes | Widely spaced eyes | Widened interpupillary distance

HPO term: Hypertelorism
HPO code: HP:0000316

GenIA ID: 1139
Last updated on: 2021-08-02 21:50:33

Cross ref. with other ontologies

NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -

Description

Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).

Hierarchical classification

TERM

Hypertelorism

CHILD terms

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
102289 M 214934tree icon 0 Moroccan Hypertelorism Otofaciocervical syndrome 2 PMID:28657137 [V:1(V.1)]; PMID:32111619 [Fam.B:V.4(P2)]
102294 F 214934tree icon 0 Moroccan Hypertelorism Otofaciocervical syndrome 2 PMID:28657137 [Fam.V:1:V.18(V:18)]; PMID:32111619 [Fam.B:V.2(P3)]
102353 M 214936tree icon 0 Indian Hypertelorism Otofaciocervical syndrome 2 PMID:29681087 [P1(II.1)]
102356 F 214936tree icon 0 Indian Hypertelorism Otofaciocervical syndrome 2 PMID:29681087 [Fam.P1:II.2(P2)]
102466 M 214962tree icon 0 Polish Hypertelorism Immunodeficiency 94 PMID:33517393 [Patient(III.7)]
103788 M 215242tree icon - South Korean Hypertelorism Hyper-IgE recurrent infection syndrome 1 PMID:19348930 [Patient(II.1)]
104392 F 215520tree icon 1 French Hypertelorism Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36122175 [Patient]
104554 M 215551tree icon - Pakistani Hypertelorism Autoinflammation, panniculitis, and dermatosis syndrome PMID:27523608 [Fam.1:V.2(V:2)]; PMID:27559085 [Fam.1:V.2(P1)]; PMID:35587511 [Fam.G:II.2(4)]; PMID:34797715 [P1]; PMID:38914362 [Fam.A:V.2(023)]
105261 F 215680 - Egyptian Hypertelorism Otofaciocervical syndrome 2 PMID:37924468 [Patient(III.1)]
105339 F 215701tree icon 0 Pakistani Hypertelorism Immunodeficiency 87 PMID:31308374 [Fam.A:III.4(P1)]
105564 M 215807tree icon 0 Spanish Hypertelorism 4q24 deletion syndrome PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)]

*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).