Monosomy 18q

General Information (adopted from Orphanet):

Synonyms, Signs: Deletion 18q
18q- syndrome
CHROMOSOME 18q- SYNDROME
Number of Symptoms 101
OrphanetNr: 1600
OMIM Id: 601808
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Sporadic
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Chromosomal anomaly with cataract
 -Rare eye disease
 -Rare genetic disease
Partial deletion of the long arm of chromosome 18
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndrome or malformation associated with head and neck malformations
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias 250 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000054) Micropenis 257 / 7739
4
 (HPO:0000252) Microcephaly 832 / 7739
5
 (HPO:0000581) Blepharophimosis 197 / 7739
6
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
7
 (HPO:0000294) Low anterior hairline 52 / 7739
8
 (HPO:0005280) Depressed nasal bridge 381 / 7739
9
 (HPO:0000175) Cleft palate 349 / 7739
10
 (HPO:0002714) Downturned corners of mouth 98 / 7739
11
 (HPO:0000452) Choanal stenosis 23 / 7739
12
 (HPO:0000322) Short philtrum 130 / 7739
13
 (HPO:0000303) Mandibular prognathia 179 / 7739
14
 (HPO:0000448) Prominent nose 56 / 7739
15
 (HPO:0000316) Hypertelorism 644 / 7739
16
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
17
 (HPO:0000204) Cleft upper lip 193 / 7739
18
 (HPO:0000272) Malar flattening 277 / 7739
19
 (HPO:0011800) Midface retrusion 221 / 7739
20
 (HPO:0000470) Short neck 345 / 7739
21
 (HPO:0010806) U-Shaped upper lip vermilion 18 / 7739
22
 (HPO:0000286) Epicanthus 371 / 7739
23
 (HPO:0000193) Bifid uvula 66 / 7739
24
 (HPO:0000648) Optic atrophy 238 / 7739
25
 (HPO:0000486) Strabismus 576 / 7739
26
 (HPO:0000547) Tapetoretinal degeneration 11 / 7739
27
 (HPO:0000639) Nystagmus 555 / 7739
28
 (HPO:0000405) Conductive hearing impairment 164 / 7739
29
 (HPO:0000400) Macrotia 108 / 7739
30
 (HPO:0000402) Stenosis of the external auditory canal 22 / 7739
31
 (HPO:0000413) Atresia of the external auditory canal 32 / 7739
32
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
33
 (HPO:0001270) Motor delay 322 / 7739
34
 (HPO:0002370) Poor coordination 15 / 7739
35
 (HPO:0001250) Seizures 1245 / 7739
36
 (HPO:0001249) Intellectual disability 1089 / 7739
37
 (HPO:0002072) Chorea 53 / 7739
38
 (HPO:0010864) Intellectual disability, severe 120 / 7739
39
 (HPO:0001337) Tremor 200 / 7739
40
 (HPO:0002136) Broad-based gait 30 / 7739
41
 (HPO:0000824) Growth hormone deficiency 56 / 7739
42
 (HPO:0001763) Pes planus 176 / 7739
43
 (HPO:0001770) Toe syndactyly 149 / 7739
44
 (HPO:0001388) Joint laxity 117 / 7739
45
 (HPO:0009623) Proximal placement of thumb 50 / 7739
46
 (HPO:0002650) Scoliosis 705 / 7739
47
 (HPO:0001761) Pes cavus 225 / 7739
48
 (HPO:0001845) Overlapping toe 18 / 7739
49
 (HPO:0001762) Talipes equinovarus 309 / 7739
50
 (HPO:0001838) Rocker bottom foot 85 / 7739
51
 (HPO:0001159) Syndactyly 140 / 7739
52
 (HPO:0001537) Umbilical hernia 206 / 7739
53
 (HPO:0000023) Inguinal hernia 181 / 7739
54
 (HPO:0004322) Short stature 1232 / 7739
55
 (HPO:0001508) Failure to thrive 454 / 7739
56
 (HPO:0001531) Failure to thrive in infancy 26 / 7739
57
 (HPO:0001047) Atopic dermatitis 20 / 7739
58
 (HPO:0001629) Ventricular septal defect 316 / 7739
59
 (HPO:0001635) Congestive heart failure 232 / 7739
60
 (HPO:0005164) Dysplastic pulmonary valve 1 / 7739
61
 (HPO:0001631) Atria septal defect 274 / 7739
62
 (HPO:0005111) Dilatation of the ascending aorta 3 / 7739
63
 (HPO:0001627) Abnormal heart morphology 19 / 7739
64
 (HPO:0005134) Absence of the pulmonary valve 2 / 7739
65
 (HPO:0005176) Dysplastic aortic valve 2 / 7739
66
 (HPO:0001643) Patent ductus arteriosus 228 / 7739
67
 (HPO:0001650) Aortic valve stenosis 49 / 7739
68
 (HPO:0004433) Secretory IgA deficiency 2 / 7739
69
 (HPO:0002720) IgA deficiency 33 / 7739
70
 (HPO:0002099) Asthma 62 / 7739
71
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
72
 (HPO:0001324) Muscle weakness 859 / 7739
73
 (HPO:0010547) Muscle flaccidity 466 / 7739
74
 (HPO:0001252) Muscular hypotonia 990 / 7739
75
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
76
 (OMIM) Prominent abdominal venous pattern 1 / 7739
77
 (OMIM) Selective IgA deficiency 2 / 7739
78
 (OMIM) Short frenulum 1 / 7739
79
 (OMIM) Tapering digits 1 / 7739
80
 (HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
81
 (OMIM) Narrow biparietal diameter 1 / 7739
82
 (HPO:0002119) Ventriculomegaly 253 / 7739
83
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
84
 (OMIM) Poor differentiation of gray and white matter on T2-weighted MRI 1 / 7739
85
 (OMIM) Atopic eczema 1 / 7739
86
 (HPO:0003745) Sporadic 131 / 7739
87
 (HPO:0012447) Abnormal myelination 7 / 7739
88
 (HPO:0012448) Delayed myelination 51 / 7739
89
 (OMIM) Interstitial or terminal deletion of 18q 1 / 7739
90
 (OMIM) Large, dysmorphic ears 1 / 7739
91
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
92
 (HPO:0002188) Delayed CNS myelination 16 / 7739
93
 (OMIM) Malformed earlobes 1 / 7739
94
 (OMIM) Planovalgus 1 / 7739
95
 (OMIM) Cognitive function, variable 1 / 7739
96
 (HPO:0011800) Midface retrusion 221 / 7739
97
 (MedDRA:10052737) Atopic disorders 1 / 7739
98
 (HPO:0012745) Short palpebral fissure 47 / 7739
99
 (OMIM) Congenital aural atresia 1 / 7739
100
 (HPO:0003812) Phenotypic variability 129 / 7739
101
 (OMIM) Protuberant lower lip 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM The phenotype is highly variable, but is characterized by mental retardation, short stature, hypotonia, hearing impairment, and foot deformities. Tapered digits and wide mouth have been described.

Hecht (1969) found low levels of immunoglobulin A in ...
Genotype-Phenotype Correlations OMIM Feenstra et al. (2007) used array comparative genomic hybridization (array CGH) to analyze in detail the chromosome 18 anomalies of 29 patients with cytogenetic 18q deletions, including 6 with a proximal interstitial deletion and 22 with a terminal ...