short stature

Basic details

Preferred term: short stature
Alt. terms: Decreased body height | Small stature

HPO term: Short stature
HPO code: HP:0004322

GenIA ID: 263
Last updated on: 2024-10-23 14:30:18

Cross ref. with other ontologies

NCIT: C118686
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -

Description

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to short stature as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

Hierarchical classification

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
101043 M 210725tree icon - Caucasian Growth delay CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017]
101062 M 212603tree icon - South Asian short stature ARPC1B deficiency PMID:28368018 [Fam.1:II.1(P1)]; PMID:30771411 [P9]; PMID:34673575 [Fam.1:II.1(P1)]
101067 M 211264 7 Growth delay PMID:34975878 [Fam.F036:P036]
101076 F 210226 48 German Growth delay PMID:34975878 [Fam.F041:P041]
101095 M 210286 - short stature PMID:34975878 [Fam.F060:P060]
101199 F 211483 - German Growth delay CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122]
101235 M 210135 2 Arab Growth delay PMID:22608502 [Fam.A:I.1]
101268 F 212145 - Iranian Growth delay Immunodeficiency, common variable, 8 PMID:22608502 [Fam.D:II.2(P5)]; PMID:29528757 [Case 8]; PMID:26707784 [P5]; PMID:28512785 [P16]
101296 M 210135 2 Arab Growth delay Immunodeficiency, common variable, 8 PMID:22608502 [Fam.A:II.3(P1)]; PMID:26707784 [P1]
101356 F 210135 2 Arab Growth delay Immunodeficiency, common variable, 8 PMID:22608502 [Fam.A:II.4(P2)]; PMID:26707784 [P2]
101375 F 212162 3 Iranian Growth delay Immunodeficiency, common variable, 8 PMID:29461210 [Fam.1:II.1(P1)]; PMID:29528757 [Case 3]; PMID:26707784 [Fam.F:IV.1(P30)]; PMID:25011360 [Case 2]; PMID:26993986 [Fam.F7:II.1(1)]; PMID:28512785 [P8]
101386 F 212164 - Pakistani Growth delay Immunodeficiency, common variable, 8 PMID:22981790 [P1(II.1)]; PMID:26707784 [P11]
101399 F 210189tree icon - German short stature Adenosine deaminase 2 deficiency PMID:28493328 [P6]; PMID:26922074 [Fam.Index:II.1(sister1)]
101446 M 212176 1 North American Growth delay Immunodeficiency, common variable, 8 PMID:26206937 [P9]
101573 F 210707 - short stature Infantile-Onset Multisystem Autoimmune Disease 1 PMID:34975878 [Fam.F196:P196]
101592 M 212605tree icon -,- Moroccan Growth delay,short stature ARPC1B deficiency PMID:27965109 [P1(II.1)]; PMID:30771411 [P1]; PMID:31710310 [Patient]; PMID:32499645 [Case 1]; PMID:34135903 [Patient]
101601 M 212619tree icon 0 Italian Growth delay ARPC1B deficiency PMID:30254128 [Fam.A:II.1(P1)]; PMID:30771411 [P2]; PMID:35967303 [Pt2]; PMID:35767111 [P2]
101604 M 212620tree icon - Italian Growth delay ARPC1B deficiency PMID:30254128 [Fam.B:II.1(P2)]; PMID:30771411 [P3]; PMID:35967303 [Pt1]; PMID:35767111 [P1]
101608 M 212621tree icon - Canadian Growth delay ARPC1B deficiency PMID:30254128 [Fam.C:II.1(P3)]; PMID:16019263 [case]; PMID:35967303 [Pt3]
101611 M 212622tree icon - Colombian Growth delay ARPC1B deficiency PMID:30254128 [Fam.D:II.4(P4)]
101613 F 210737 17 Growth delay PMID:34975878 [Fam.F210:P210]
101631 F 212624tree icon - Turkish Growth delay ARPC1B deficiency PMID:30254128 [Fam.F:II.1(P6)]
101651 M 210939 28 Disproportionate short stature PMID:34975878 [Fam.F226:P226]
101717 F 210260tree icon - Caucasian Growth delay CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.C:II.3(C.II.3)]; PMID:29729943 [Fam.C:II.3(C.II.3 (19))]; PMID:27418640 [P16(5)]
101718 F 210260tree icon - Caucasian Growth delay CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.C:II.4(C.II.4)]; PMID:29729943 [Fam.C:II.4(C.II.4 (20))]; PMID:27418640 [P17(5)]
101777 F 210920 - Libyan short stature Immunodeficiency, common variable, 8 PMID:26745254 [P1(II.1)]
102124 F 214351tree icon - Sudanese short stature Hyper-IgE recurrent infection syndrome 3 PMID:29907690 [Fam.B:IV.5(B.II.4)]
102143 M 214416 - Slovenian Growth delay Immunodeficiency, common variable, 8 PMID:28720148 [Patient]
102175 M 210725tree icon - Caucasian Growth delay CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)]
102239 F 214923tree icon 2 Brasilian Growth delay ARPC1B deficiency GRID:000604 [case(II.2)]; PMID:37349293 [Fam.B:II.1(Patient)]
102260 F 214926tree icon - Mexican short stature ARPC1B deficiency PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)]
102368 F 214938tree icon 0 Afghanistani Growth delay Stuve-Wiedemann syndrome 2 PMID:31914175 [Fam.A:II.2]
102417 F 214946tree icon 0 Dutch short stature Stuve-Wiedemann syndrome 2 PMID:31914175 [Fam.C:II.3]
102466 M 214962tree icon 2,- Polish Growth delay,short stature Immunodeficiency 94 PMID:33517393 [Patient(III.7)]
102477 M 214964tree icon - Turkish short stature Hyper-IgE recurrent infection syndrome 4B PMID:30309848 [Patient(III.5)]
102528 M 214965tree icon - Irish Traveller short stature Immunodeficiency 54 PMID:22354170 [Fam.C:II.4(P2)]
102630 M 214970tree icon 1 European Growth delay Immunodeficiency 98 with autoinflammation, somatic PMID:33512449 [Fam.2:II.1(P2)]
102653 F 214977tree icon - Irish Traveller short stature Immunodeficiency 54 PMID:22499342 [Fam.1:III.11(III:11)]
102654 F 214978tree icon 1 North American Growth delay Immunodeficiency 8 PMID:19097825 [Patient(II.2)]; PMID:18836449 [Patient(II.2)]
102677 M 214980tree icon 16 Pakistani short stature JAK1 deficiency PMID:28008925 [Patient(II.4)]
102711 F 214977tree icon - Irish Traveller short stature Immunodeficiency 54 PMID:22499342 [Fam.1:IV.4(IV:4)]
102716 M 214977tree icon - Irish Traveller short stature Immunodeficiency 54 PMID:22499342 [Fam.1:IV.9(IV:9)]
102717 F 214977tree icon - Irish Traveller short stature Immunodeficiency 54 PMID:22499342 [Fam.1:IV.10(IV:10)]
102719 F 214981tree icon - Canadian short stature Autoinflammation, immune dysregulation, and eosinophilia PMID:28111307 [Fam.1:II.2(Patient)]; PMID:36546480 [Fam.1:II.2(II-2)]
102720 F 214977tree icon - Irish Traveller short stature Immunodeficiency 54 PMID:22499342 [Fam.1:IV.12(IV:12)]
102729 M 214981tree icon 0 Canadian short stature Autoinflammation, immune dysregulation, and eosinophilia PMID:28111307 [Fam.1:III.1]; PMID:36546480 [Fam.1:III.1(III-1)]
102730 M 214981tree icon 0 Canadian short stature Autoinflammation, immune dysregulation, and eosinophilia PMID:28111307 [Fam.1:III.2]; PMID:36546480 [Fam.1:III.2(III-2)]
102731 F 214982tree icon - Colombian Growth delay Immunodeficiency 99 PMID:32484799 [Patient(II.2)]
102735 F 214983tree icon - North American short stature Autoinflammation, immune dysregulation, and eosinophilia PMID:32750333 [Patient(II.2)]
102739 F 214984tree icon 0 Japanese short stature Autoinflammation, immune dysregulation, and eosinophilia PMID:35046931 [Patient(II.1)]
102814 U 214993tree icon - Caucasian short stature SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation PMID:16439205 [Patient]; PMID:12604777 [2BN(II.1)]
102818 M 214993tree icon - Caucasian short stature SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation PMID:12604777 [Fam.2BN:II.2(3BN)]
102891 F 215006tree icon 0 Indian Growth delay T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:28636882 [Patient(II.3)]; PMID:33464451 [P6]
103116 F 215101tree icon - Saudi short stature Seizures, cortical blindness, microcephaly syndrome PMID:24781755 [P1(IV.4)]
103128 F 215101tree icon - Saudi short stature Seizures, cortical blindness, microcephaly syndrome PMID:24781755 [Fam.P1:IV.5]
103129 F 215101tree icon - Saudi short stature Seizures, cortical blindness, microcephaly syndrome PMID:24781755 [Fam.P1:IV.6]
103131 M 215101tree icon - Saudi short stature Seizures, cortical blindness, microcephaly syndrome PMID:24781755 [Fam.P1:IV.8]
103152 F 215104tree icon 9 Omani short stature Seizures, cortical blindness, microcephaly syndrome PMID:26463574 [Fam.MC2500:IV.9(MC2501)]
103466 M 215133tree icon - Irish Traveller short stature Immunodeficiency 54 PMID:22499342 [Fam.3:II.1(II:1)]
103488 F 215138 0 Brasilian short stature Immunodeficiency 55 PMID:31630891 [P9]
103489 M 215139tree icon - Brasilian short stature Baraitser-Winter syndrome 2 PMID:31630891 [P1]
103490 F 215140tree icon - Brasilian short stature CHOPS syndrome PMID:31630891 [P2]
103491 M 215141tree icon - Brasilian short stature KBG syndrome PMID:31630891 [P3]
103492 M 215142tree icon - Brasilian short stature Intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities PMID:31630891 [P4]
103493 F 215143tree icon - Brasilian short stature Fanconi anemia, complementation group S PMID:31630891 [P5]; PMID:29133208 [Patient(II.1)]
103496 F 215144 - Brasilian short stature IMAGE syndrome PMID:31630891 [P6]
103497 F 215145tree icon - Brasilian short stature Otospondylomegaepiphyseal dysplasia PMID:31630891 [P7]
103498 M 215146tree icon - Brasilian short stature Legg-Calve-Perthes disease PMID:31630891 [P8]
103501 M 215147tree icon - Brasilian short stature Muscular dystrophy, congenital, with cataracts and intellectual disability PMID:31630891 [P10]
103502 M 215148tree icon - Brasilian short stature Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation PMID:31630891 [P11(II.1)]
103505 M 215149tree icon - Brasilian short stature Wiedemann-Steiner syndrome PMID:31630891 [P12]
103506 M 215150tree icon - Brasilian short stature SOFT syndrome PMID:31630891 [P13]
103507 M 215151tree icon - Brasilian short stature Floating-Harbor syndrome PMID:31630891 [P14]
103508 F 215152tree icon - Brasilian short stature Floating-Harbor syndrome PMID:31630891 [P15]
103820 M 215254tree icon 23 French short stature Adenosine deaminase 2 deficiency PMID:25278816 [Fam.F785:II.5(P1)]
103877 F 215266tree icon - Finnish Growth delay Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2]
103880 F 215269tree icon - Finnish Growth delay Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)]
103997 M 215318tree icon - short stature Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P1]; PMID:30092289 [P16]
104001 F 215322tree icon - North American short stature Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P5]; PMID:32392079 [P3]; PMID:30092289 [P15]; PMID:35677041 [Pt3]; PMID:33651637 [Patient 1]
104002 F 215323tree icon - short stature Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P6]
104003 F 215324 - short stature Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P7]
104005 F 215326tree icon - short stature Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [Fam.1:II.1(P9)]; PMID:35677041 [Pt4]
104009 M 215327tree icon - short stature Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [Fam.2:II.1(P12)]
104011 M 215327tree icon - short stature Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [Fam.2:I.2(P13)]
104402 M 215523tree icon - Turkish Growth delay Immunodeficiency 114 PMID:36517554 [Fam.Pt1:IV.4(Pt2)]
104410 M 215525tree icon - Japanese short stature Early-onset atopic inflammation PMID:36538978 [Patient(II.2)]
104438 F 215527tree icon - Middle Eastern short stature Early-onset atopic inflammation PMID:36884218 [Fam.A:II.1(P1)]
104444 F 215528tree icon - Spanish short stature Early-onset atopic inflammation PMID:36884218 [Fam.B:II.2(P2)]
104449 M 215529tree icon - Middle Eastern Growth delay Early-onset atopic inflammation PMID:36884218 [Fam.C:II.1(P4)]
104458 M 215531tree icon - East Asian short stature Early-onset atopic inflammation PMID:36884218 [Fam.E:II.1(P6)]
104465 M 215533tree icon - short stature Early-onset atopic inflammation PMID:36884218 [Fam.G:II.1(P10)]
104473 M 215534tree icon - South Asian short stature Early-onset atopic inflammation PMID:36884218 [Fam.H:II.1(P11)]
104477 M 215535tree icon - SouthEast Asian short stature Early-onset atopic inflammation PMID:36884218 [Fam.I:II.2(P12)]
104481 M 215536tree icon - Caucasian short stature Early-onset atopic inflammation PMID:36884218 [Fam.J:IV.2(P14)]
104519 F 215537 - Gypsy Growth delay ARPC1B deficiency PMID:31379835 [P1]
104520 M 215537 - Gypsy Growth delay ARPC1B deficiency PMID:31379835 [Fam.P1:II.2(P2)]
104521 F 215538 - Gypsy Growth delay ARPC1B deficiency PMID:31379835 [P3]
104568 F 215551tree icon - Pakistani Growth delay Autoinflammation, panniculitis, and dermatosis syndrome PMID:27523608 [Fam.1:IV.3(IV:3)]; PMID:32231246 [IV:3(IV.3)]; PMID:27559085 [Fam.1:IV.1(P4)]; PMID:38914362 [Fam.A:V.6(027)]
104570 F 215551tree icon - Pakistani Growth delay Autoinflammation, panniculitis, and dermatosis syndrome PMID:27523608 [Fam.1:IV.4(IV:4)]; PMID:27559085 [Fam.1:IV.3(NA)]; PMID:38914362 [Fam.A:V.7(028)]
104639 F 215562 2 Iraqi short stature Immunodeficiency 91 and hyperinflammation PMID:33872655 [Fam.A:II.2(P1.2)]
104671 F 215568tree icon - Lebanese short stature Severe early onset systemic inflammation and autoimmunity PMID:37349293 [Fam.1:II.1(P1)]
104715 M 215572tree icon -,- French Growth delay,short stature Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [V-1(V.1)]
104733 F 215572tree icon - French short stature Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:II.16]
104771 M 215572tree icon - French short stature Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:IV.5]
104782 M 215572tree icon -,- French Growth delay,short stature Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:V.2]
104864 F 215598tree icon - short stature Immunodeficiency, common variable, 14 PMID:33864888 [S125]; PMID:37876937 [Fam.B:II.1(B.1)]
104886 F 215613tree icon - Caucasian Growth delay CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)]
104916 M 215613tree icon - Caucasian Growth delay CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [G.III.2]; PMID:29729943 [Fam.G:III.2(G.III.2 (27))]; PMID:25367873 [Fam.1:III.5(III.5)]
105028 F 215627 - French Growth delay Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30299506 [Patient]; PMID:32392079 [P2]; PMID:35677041 [Pt10]
105043 F 215630tree icon - Caucasian Growth delay CTLA4 haploinsufficiency with autoimmune infiltration PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))]
105046 M 215632tree icon 6 short stature Infantile-Onset Multisystem Autoimmune Disease 1 PMID:28253502 [Fam.1:II.1(Patient 1)]
105050 F 215633 -,- Growth delay,short stature Infantile-Onset Multisystem Autoimmune Disease 1 PMID:28253502 [Patient 2]
105088 M 215638 - Japanese Growth delay CTLA4 haploinsufficiency with autoimmune infiltration PMID:26644313 [II.3(II.3)]; PMID:30250467 [M.II.3]; PMID:29729943 [Fam.M:II.3(M.II.3 (37))]; PMID:27418640 [P21(II.3)]; PMID:35087518 [11.1]
105103 F 215641 5 South Korean Growth delay CTLA4 haploinsufficiency with autoimmune infiltration PMID:26478010 [III.2(III.2)]
105112 F 215646 - Growth delay NFKB1 insufficiency PMID:27379089 [P5]; PMID:32278790 [BM.I.5]; PMID:29403474 [Patient 5 (10)]; PMID:150198 [Fam.AJ:147]
105176 F 215661 - Caucasian Growth delay CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(3)]
105180 M 215662 - Caucasian Growth delay CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)]
105355 M 215717 6 Caucasian Growth delay Immunodeficiency, common variable, 8 PMID:28197149 [P1(II.1)]
105400 M 215751 - Turkish Growth delay Immunodeficiency, common variable, 8 PMID:32219082 [Patient 1]
105529 M 215789 - short stature Infantile-Onset Multisystem Autoimmune Disease 1 PMID:27379089 [P7]
105533 M 215791 - Portuguese short stature CTLA4 haploinsufficiency with autoimmune infiltration PMID:29225858 [Patient(I.1)]
105567 M 215808 - Turkish Growth delay Immunodeficiency, common variable, 8 PMID:31026575 [P3]; PMID:31432443 [P12]
105629 M 215823 4 Growth delay Immunodeficiency, common variable, 8 PMID:34368306 [Patient 1]
105647 M 215832 - Growth delay Immunodeficiency, common variable, 8 PMID:34368306 [Patient 3]
105657 F 215835 - short stature Activated p110-delta syndrome 1 PMID:27379089 [11]
105800 M 215882 - short stature Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33864888 [S112]
105907 M 215904 - Caucasian Growth delay CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.J:II.1(J.II.1 (32))]
106069 F 215932 - Caucasian Growth delay CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.RR:II.1(RR.II.1 (98))]
106085 F 215941 - short stature 4q24 deletion syndrome PMID:150198 [Fam.EO:592]; PMID:35784294 [314461]
106279 M 215977 - Caucasian Growth delay CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.UU:V.2(UU.V.2 (122))]; PMID:29305966 [Fam.IV.2:V.1(V.1)]
106313 F 215982 - Caucasian Growth delay CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [P1]
106327 M 215987tree icon - Italian short stature NFKB1 insufficiency PMID:150198 [Fam.FR:III.1(734)]; PMID:37600787 [Fam.1:III.1(index)]
106330 F 215987tree icon - Italian short stature NFKB1 insufficiency PMID:150198 [Fam.FR:II.2(733)]; PMID:37600787 [Fam.1:II.2(mother)]
106595 F 216086 12 Growth delay CTLA4 haploinsufficiency with autoimmune infiltration PMID:34116213 [Fam.B:P2]
106600 M 216087tree icon - French Growth delay Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.1:II.2(P3)]
106604 M 216088tree icon - Afro-American Growth delay Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.2:II.4(P7)]
106622 M 216091tree icon - Ashkenazi Jewish Growth delay Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.4:II.1(P11)]
106767 M 216125 4 short stature Combined immunodeficiency 14B PMID:31449058 [P1(II.1)]
106956 M 216197 - short stature Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30092289 [P12]
107095 M 216331 - Japanese short stature Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33501615 [P2]
107096 F 216332 - Japanese short stature Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33501615 [P3]
107212 F 216374 4 Arab short stature Combined immunodeficiency 37 PMID:31775018 [Patient]
107249 F 216398tree icon 2,0 Argentinian Birth length less than 3rd percentile,short stature Infantile-Onset Multisystem Autoimmune Disease 1 PMID:35677041 [Pt7]; PMID:29378236 [Fam.1:Patient 1]
107252 M 216399tree icon 3 North American short stature Infantile-Onset Multisystem Autoimmune Disease 1 PMID:29378236 [Fam.2:II.2(Patient 2)]

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