17q11.2 microduplication syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: NF1 MICRODELETION SYNDROME NF1 MICRODUPLICATION SYNDROME, INCLUDED
NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME
Grisart-Destrée syndrome
Dup(17)(q11.2)
Trisomy 17q11.2
Number of Symptoms 81
OrphanetNr: 139474
OMIM Id: 613675
ICD-10: Q92.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial duplication of the long arm of chromosome 17
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000316) Hypertelorism 25/29 [HPO] 20543202 IBIS 644 / 7739
2
(HPO:0009737) Lisch nodules 27/29 [HPO] 20543202 IBIS 10 / 7739
3
(HPO:0009734) Optic glioma 5/27 [HPO] 20543202 IBIS 7 / 7739
4
(HPO:0000486) Strabismus 4/29 [HPO] 20543202 IBIS 576 / 7739
5
(HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
6
(HPO:0000098) Tall stature 13/28 [HPO] 20543202 IBIS 74 / 7739
7
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
8
(HPO:0001252) Muscular hypotonia 13/29 [HPO] 20543202 IBIS 990 / 7739
9
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
10
(HPO:0010547) Muscle flaccidity 466 / 7739
11
(HPO:0001324) Muscle weakness 859 / 7739
12
(HPO:0009732) Plexiform neurofibroma 22/29 [HPO] 20543202 IBIS 3 / 7739
13
(HPO:0009735) Spinal neurofibromas 9/14 [HPO] 20543202 IBIS 3 / 7739
14
(HPO:0100698) Subcutaneous neurofibromas 22/29 [HPO] 20543202 IBIS 3 / 7739
15
(HPO:0007018) Attention deficit hyperactivity disorder 8/24 [HPO] 20543202 IBIS 56 / 7739
16
(HPO:0001328) Specific learning disability 13/29 [HPO] 20543202 IBIS 114 / 7739
17
(HPO:0001263) Global developmental delay 14/29 [HPO] 20543202 IBIS 853 / 7739
18
(HPO:0001249) Intellectual disability 38 % [HPO:skoehler] 1089 / 7739
19
(HPO:0100543) Cognitive impairment 27/29 [HPO] 230 / 7739
20
(HPO:0000750) Delayed speech and language development 14/29 [HPO] 20543202 IBIS 197 / 7739
21
(HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
22
(HPO:0001250) Seizures Occasional [Orphanet] 2/29 [HPO] 20543202 IBIS 1245 / 7739
23
(HPO:0001822) Hallux valgus 70 / 7739
24
(HPO:0001765) Hammertoe 63 / 7739
25
(HPO:0001833) Long foot 46 % [HPO:skoehler] 33 / 7739
26
(HPO:0001761) Pes cavus 5/29 [HPO] 20543202 IBIS 225 / 7739
27
(HPO:0001763) Pes planus 176 / 7739
28
(HPO:0001838) Rocker bottom foot 85 / 7739
29
(HPO:0001230) Broad metacarpals 17 / 7739
30
(HPO:0001169) Broad palm 43 / 7739
31
(HPO:0001176) Large hands 13/28 [HPO] 20543202 IBIS 43 / 7739
32
(HPO:0000256) Macrocephaly 9/23 [HPO] 20543202 IBIS 298 / 7739
33
(HPO:0001355) Megalencephaly 39 / 7739
34
(HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
35
(HPO:0004482) Relative macrocephaly 44 / 7739
36
(HPO:0000767) Pectus excavatum 9/29 [HPO] 20543202 IBIS 244 / 7739
37
(HPO:0000915) Pectus excavatum of inferior sternum 21 / 7739
38
(HPO:0002650) Scoliosis 12/28 [HPO] 20543202 IBIS 705 / 7739
39
(HPO:0012062) Bone cyst 8/16 [HPO] 20543202 IBIS 19 / 7739
40
(HPO:0001382) Joint hypermobility 21/29 [HPO] 20543202 IBIS 231 / 7739
41
(HPO:0100840) Aplasia/Hypoplasia of the eyebrow Occasional [Orphanet] 117 / 7739
42
(HPO:0200102) Sparse or absent eyelashes Occasional [Orphanet] 64 / 7739
43
(HPO:0001596) Alopecia Frequent [Orphanet] 162 / 7739
44
(HPO:0000053) Macroorchidism Occasional [Orphanet] 18 / 7739
45
(HPO:0000271) Abnormality of the face 108 / 7739
46
(HPO:0001999) Abnormal facial shape 169 / 7739
47
(HPO:0000280) Coarse facial features 17/29 [HPO] 20543202 IBIS 189 / 7739
48
(HPO:0000324) Facial asymmetry 8/29 [HPO] 20543202 IBIS 57 / 7739
49
(HPO:0000276) Long face Occasional [Orphanet] 109 / 7739
50
(HPO:0000272) Malar flattening Occasional [Orphanet] 277 / 7739
51
(HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
52
(HPO:0000319) Smooth philtrum 72 / 7739
53
(HPO:0000233) Thin vermilion border Occasional [Orphanet] 124 / 7739
54
(HPO:0000366) Abnormality of the nose Occasional [Orphanet] 56 / 7739
55
(HPO:0004411) Deviated nasal septum Occasional [Orphanet] 3 / 7739
56
(HPO:0009928) Thick nasal alae Occasional [Orphanet] 21 / 7739
57
(HPO:0000475) Broad neck 9/29 [HPO] 20543202 IBIS 12 / 7739
58
(HPO:0000369) Low-set ears 4/29 [HPO] 20543202 IBIS 372 / 7739
59
(HPO:0000957) Cafe-au-lait spot 27/29 [HPO] 20543202 IBIS 84 / 7739
60
(HPO:0007429) Few cafe-au-lait spots 7 / 7739
61
(HPO:0000997) Axillary freckling 28/29 [HPO] 20543202 IBIS 9 / 7739
62
(HPO:0007565) Multiple cafe-au-lait spots 11 / 7739
63
(HPO:0000365) Hearing impairment 3/29 [HPO] 20543202 IBIS 539 / 7739
64
(HPO:0100697) Neurofibrosarcoma 6/29 [HPO] 20543202 IBIS 5 / 7739
65
(HPO:0001548) Overgrowth 27 / 7739
66
(HPO:0030680) Abnormality of cardiovascular system morphology 8/28 [HPO] 355 / 7739
67
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
68
(HPO:0007183) Focal T2 hyperintense basal ganglia lesion 13/29 [HPO] 20543202 IBIS 6 / 7739
69
(HPO:0030052) Inguinal freckling 3 / 7739
70
(HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
71
(HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
72
(HPO:0003745) Sporadic 131 / 7739
73
(OMIM) Accelerated carpal bone age 2 / 7739
74
(OMIM) Attention difficulties (73%) 2 / 7739
75
(OMIM) Brain MRI shows T2-weighted hyperintensities (17%) 2 / 7739
76
(OMIM) Contiguous gene deletion syndrome 23 / 7739
77
(OMIM) Delayed cognitive development/learning disabilities (93%) 2 / 7739
78
(OMIM) Increased joint laxity (72%) 2 / 7739
79
(OMIM) Inguinal freckling 4 / 7739
80
(OMIM) Large feet 12 / 7739
81
(OMIM) Soft fleshy palms (50%) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Approximately 5 to 20% of all patients with neurofibromatosis type I (162200) carry a heterozygous deletion of approximately 1.4 Mb involving the NF1 gene and contiguous genes lying in its flanking regions (Riva et al., 2000; Jenne et ...
Clinical Description OMIM Kayes et al. (1994) reported 5 NF1 patients with deletions of chromosome 17q11.2 including the NF1 gene. All had mild facial dysmorphism, mental retardation, and/or learning disabilities. Five patients were remarkable for the large number of neurofibromas for ...
Molecular genetics OMIM About 5% of all patients with neurofibromatosis type I (NF1) have large deletions in 17q11.2 that include both the NF1 gene and its flanking regions. There are 3 main types of chromosome 17q11.2 deletions. The most common deletion ...