Jacobsen syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: JBS
Distal monosomy 11q
Telomeric deletion 11q
CHROMOSOME 11q DELETION SYNDROME
Distal deletion 11q
Del(11)(q23.3)
Del(11)(qter)
PARTIAL 11q MONOSOMY SYNDROME
Partial deletion 11q
Monosomy 11qter
Number of Symptoms 117
OrphanetNr: 2308
OMIM Id: 147791
ICD-10: Q93.5
UMLs: C0795841
MeSH: D054868
MedDRA:
Snomed: 4325000

Prevalence, inheritance and age of onset:

Prevalence: 150 cases [Orphanet]
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial deletion of the long arm of chromosome 11
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Ptosis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000060) Clitoral hypoplasia 9 / 7739
3
 (HPO:0000047) Hypospadias 250 / 7739
4
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
5
 (HPO:0000028) Cryptorchidism 347 / 7739
6
 (HPO:0000066) Labial hypoplasia 10 / 7739
7
 (HPO:0000107) Renal cyst Occasional [Orphanet] 126 / 7739
8
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
9
 (HPO:0000499) Abnormality of the eyelashes 35 / 7739
10
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
11
 (HPO:0000492) Abnormality of the eyelid Occasional [Orphanet] 41 / 7739
12
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
13
 (HPO:0005280) Depressed nasal bridge 381 / 7739
14
 (HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
15
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
16
 (HPO:0010806) U-Shaped upper lip vermilion 18 / 7739
17
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
18
 (HPO:0000243) Trigonocephaly Occasional [Orphanet] 40 / 7739
19
 (HPO:0000252) Microcephaly 832 / 7739
20
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
21
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
22
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
23
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
24
 (HPO:0000568) Microphthalmia 183 / 7739
25
 (HPO:0000625) Cleft eyelid Occasional [Orphanet] 31 / 7739
26
 (HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
27
 (HPO:0000465) Webbed neck Occasional [Orphanet] 81 / 7739
28
 (HPO:0005469) Flat occiput 30 / 7739
29
 (HPO:0000347) Micrognathia 426 / 7739
30
 (HPO:0000288) Abnormality of the philtrum Frequent [Orphanet] 54 / 7739
31
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
32
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
33
 (HPO:0000506) Telecanthus 156 / 7739
34
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
35
 (HPO:0010761) Broad columella Frequent [Orphanet] 10 / 7739
36
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
37
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
38
 (HPO:0000646) Amblyopia 42 / 7739
39
 (HPO:0001104) Macular hypoplasia 9 / 7739
40
 (HPO:0000482) Microcornea 102 / 7739
41
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
42
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
43
 (HPO:0000579) Nasolacrimal duct obstruction 9 / 7739
44
 (HPO:0000567) Chorioretinal coloboma 26 / 7739
45
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
46
 (HPO:0000648) Optic atrophy 238 / 7739
47
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
48
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Frequent [Orphanet] 41 / 7739
49
 (HPO:0000369) Low-set ears 372 / 7739
50
 (HPO:0001257) Spasticity 251 / 7739
51
 (HPO:0000752) Hyperactivity Frequent [Orphanet] 140 / 7739
52
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
53
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
54
 (HPO:0001249) Intellectual disability 1089 / 7739
55
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Frequent [Orphanet] 69 / 7739
56
 (HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
57
 (HPO:0010055) Broad hallux Frequent [Orphanet] 56 / 7739
58
 (HPO:0001847) Long hallux Frequent [Orphanet] 13 / 7739
59
 (HPO:0010488) Aplasia/Hypoplasia of the palmar creases Occasional [Orphanet] 15 / 7739
60
 (HPO:0000921) Missing ribs Frequent [Orphanet] 62 / 7739
61
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
62
 (HPO:0000767) Pectus excavatum 244 / 7739
63
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
64
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
65
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
66
 (HPO:0002414) Spina bifida Occasional [Orphanet] 47 / 7739
67
 (HPO:0001863) Toe clinodactyly Frequent [Orphanet] 12 / 7739
68
 (HPO:0001763) Pes planus Frequent [Orphanet] 176 / 7739
69
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
70
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
71
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
72
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
73
 (HPO:0001371) Flexion contracture 220 / 7739
74
 (HPO:0001622) Premature birth Frequent [Orphanet] 100 / 7739
75
 (HPO:0002566) Intestinal malrotation Occasional [Orphanet] 89 / 7739
76
 (HPO:0002021) Pyloric stenosis Occasional [Orphanet] 51 / 7739
77
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
78
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
79
 (HPO:0001734) Annular pancreas Occasional [Orphanet] 10 / 7739
80
 (HPO:0002019) Constipation Frequent [Orphanet] 194 / 7739
81
 (HPO:0100867) Duodenal stenosis Occasional [Orphanet] 29 / 7739
82
 (HPO:0001545) Anteriorly placed anus Occasional [Orphanet] 55 / 7739
83
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
84
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
85
 (HPO:0001508) Failure to thrive 454 / 7739
86
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
87
 (HPO:0000964) Eczema Occasional [Orphanet] 81 / 7739
88
 (HPO:0001631) Atria septal defect 274 / 7739
89
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
90
 (HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
91
 (HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
92
 (HPO:0004383) Hypoplastic left heart Occasional [Orphanet] 29 / 7739
93
 (HPO:0001873) Thrombocytopenia Very frequent [Orphanet] 224 / 7739
94
 (HPO:0001876) Pancytopenia Very frequent [Orphanet] 89 / 7739
95
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
96
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
97
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
98
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
99
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
100
 (HPO:0003745) Sporadic 131 / 7739
101
 (OMIM) Abnormal eyebrows 2 / 7739
102
 (HPO:0001360) Holoprosencephaly 29 / 7739
103
 (OMIM) Abnormal eyelashes 1 / 7739
104
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
105
 (OMIM) Mild transient cherry-red spot 1 / 7739
106
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
107
 (OMIM) Contiguous gene deletion syndrome 23 / 7739
108
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
109
 (OMIM) Congenital nasolacrimal duct obstruction 1 / 7739
110
 (OMIM) Nonspecific granular appearance of retinal pigment epithelium 1 / 7739
111
 (HPO:0000238) Hydrocephalus 278 / 7739
112
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
113
 (OMIM) Partial deletion of long arm of chromosome 11 (11q23-qter) 1 / 7739
114
 (MedDRA:10072883) Brachydactyly 153 / 7739
115
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
116
 (OMIM) Iris discoloration 1 / 7739
117
 (OMIM) Anomalous extraocular muscles 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The Jacobsen syndrome is a clinically characteristic disorder due to deletion of the terminal band 11q23. This band is known to harbor a heritable folate-sensitive fragile site (Sutherland and Hecht, 1985). The disorder was first observed by Jacobsen ...
Genotype-Phenotype Correlations OMIM Grossfeld et al. (2004) provided a molecular analysis of the deletion breakpoints in 65 patients with the 11q terminal deletion disorder and defined genetic 'critical regions' for 14 clinical phenotypes.

Bernaciak et al. (2008) reported a ...
Population genetics OMIM Ji et al. (2010) noted that the incidence of distal 11q deletions in the population is difficult to estimate, but JBS occurs in about 1 in 100,000 births, and the female:male ratio is 2:1.