17q23.1q23.2 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: 17q23.1-q23.2 microdeletion syndrome
Del(17)(q23.1q23.2)
Monosomy 17q23.1-q23.2
Monosomy 17q23.1q23.2
Number of Symptoms 65
OrphanetNr: 261279
OMIM Id: 613355
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial deletion of the long arm of chromosome 17
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000049) Shawl scrotum Occasional [Orphanet] 31 / 7739
2
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
3
 (HPO:0011800) Midface retrusion Occasional [Orphanet] 221 / 7739
4
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
5
 (HPO:0000498) Blepharitis Occasional [Orphanet] 27 / 7739
6
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
7
 (HPO:0000366) Abnormality of the nose Occasional [Orphanet] 56 / 7739
8
 (HPO:0000160) Narrow mouth Occasional [Orphanet] 188 / 7739
9
 (HPO:0005105) Abnormal nasal morphology Occasional [Orphanet] 114 / 7739
10
 (HPO:0002553) Highly arched eyebrow Occasional [Orphanet] 92 / 7739
11
 (HPO:0005280) Depressed nasal bridge Occasional [Orphanet] 381 / 7739
12
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
13
 (HPO:0001999) Abnormal facial shape 169 / 7739
14
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
15
 (HPO:0000499) Abnormality of the eyelashes Occasional [Orphanet] 35 / 7739
16
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
17
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
18
 (HPO:0000357) Abnormal location of ears Occasional [Orphanet] 328 / 7739
19
 (HPO:0000389) Chronic otitis media Occasional [Orphanet] 64 / 7739
20
 (HPO:0001256) Intellectual disability, mild 141 / 7739
21
 (HPO:0000718) Aggressive behavior 109 / 7739
22
 (HPO:0001263) Global developmental delay 853 / 7739
23
 (HPO:0000708) Behavioral abnormality Occasional [Orphanet] 212 / 7739
24
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
25
 (HPO:0001347) Hyperreflexia Occasional [Orphanet] 363 / 7739
26
 (HPO:0001833) Long foot Very frequent [Orphanet] 33 / 7739
27
 (HPO:0001763) Pes planus Occasional [Orphanet] 176 / 7739
28
 (HPO:0001238) Slender finger 23 / 7739
29
 (HPO:0001852) Sandal gap Occasional [Orphanet] 63 / 7739
30
 (HPO:0010511) Long toe 9 / 7739
31
 (HPO:0005930) Abnormality of epiphysis morphology Occasional [Orphanet] 119 / 7739
32
 (HPO:0001840) Metatarsus adductus 49 / 7739
33
 (HPO:0004684) Talipes valgus 28 / 7739
34
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
35
 (HPO:0000954) Single transverse palmar crease Occasional [Orphanet] 162 / 7739
36
 (HPO:0010769) Pilonidal sinus Occasional [Orphanet] 35 / 7739
37
 (HPO:0003045) Abnormality of the patella Occasional [Orphanet] 33 / 7739
38
 (HPO:0004696) Talipes cavus equinovarus 13 / 7739
39
 (HPO:0100807) Long fingers 23 / 7739
40
 (HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
41
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
42
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
43
 (HPO:0001761) Pes cavus 225 / 7739
44
 (HPO:0001836) Camptodactyly of toe Occasional [Orphanet] 27 / 7739
45
 (HPO:0001762) Talipes equinovarus 309 / 7739
46
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
47
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
48
 (HPO:0001518) Small for gestational age 107 / 7739
49
 (HPO:0008897) Postnatal growth retardation 113 / 7739
50
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
51
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
52
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
53
 (HPO:0001647) Bicuspid aortic valve 34 / 7739
54
 (HPO:0001631) Atria septal defect Occasional [Orphanet] 274 / 7739
55
 (HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
56
 (HPO:0002092) Pulmonary hypertension Frequent [Orphanet] 109 / 7739
57
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
58
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
59
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
60
 (OMIM) Thin toes 1 / 7739
61
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
62
 (OMIM) Ossification defects 3 / 7739
63
 (HPO:0003745) Sporadic 131 / 7739
64
 (OMIM) Facial dysmorphism, mild, variable 1 / 7739
65
 (OMIM) Developmental delay, mild to moderate 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ballif et al. (2010) reported 7 unrelated patients with chromosome 17q23.1-q23.2 deletion syndrome ranging in age from 8 months to 16.5 years. All individuals had mild to moderate developmental delay. Other common features included low birth weight (5 ...